Ontology type: schema:ScholarlyArticle
2019-04
AUTHORSMuriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anna Sowinska-Seidler, Magdalena Socha, Anna Jakubiuk-Tomaszuk, Marion Gerard, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Alain Verloes, Annick Toutain, Ghislaine Plessis, Philippe Jonveaux, Clarisse Baumann, Albert David, Chantal Farra, Estelle Colin, Sébastien Jacquemont, Annick Rossi, Sahar Mansour, Neeti Ghali, Anne Moncla, Nayana Lahiri, Jane Hurst, Elena Pollina, Christine Patch, Joo Wook Ahn, Anne-Sylvie Valat, Aurélie Mezel, Philippe Bourgeot, David Zhang, Sylvie Manouvrier-Hanu
ABSTRACTSplit-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13). Duplications at 17p13.3 are seen in SHFM when isolated or associated with long bone deficiency. Tandem genomic duplications at chromosome 10q24 involving at least the DACTYLIN gene are associated with SHFM3. No point variant in any of the genes residing within the region has been identified so far, but duplication of exon 1 of the BTRC gene may explain the phenotype, with likely complex alterations of gene regulation mechanisms that would impair limb morphogenesis. We report on 32 new index cases identified by array-CGH and/or by qPCR, including some prenatal ones, leading to termination for the most severe. Twenty-two cases were presenting with SHFM and 7 with monodactyly only. Three had an overlapping phenotype. Additional findings were identified in 5 (renal dysplasia, cutis aplasia, hypogonadism and agenesis of corpus callosum with hydrocephalus). We present their clinical and radiological findings and review the literature on this rearrangement that seems to be one of the most frequent cause of SHFM. More... »
PAGES525-534
http://scigraph.springernature.com/pub.10.1038/s41431-018-0326-9
DOIhttp://dx.doi.org/10.1038/s41431-018-0326-9
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1111261104
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/30622331
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Guy's Hospital",
"id": "https://www.grid.ac/institutes/grid.239826.4",
"name": [
"Clinical Genetics, Guy\u2019s Hospital, London, UK"
],
"type": "Organization"
},
"familyName": "Holder-Espinasse",
"givenName": "Muriel",
"id": "sg:person.01111077126.80",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111077126.80"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Poznan University of Medical Sciences",
"id": "https://www.grid.ac/institutes/grid.22254.33",
"name": [
"Department of Medical Genetics, University of Medical Sciences, Poznan, Poland"
],
"type": "Organization"
},
"familyName": "Jamsheer",
"givenName": "Aleksander",
"id": "sg:person.01175622241.59",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175622241.59"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Regional et Universitaire de Lille",
"id": "https://www.grid.ac/institutes/grid.410463.4",
"name": [
"Institut de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Lille, Lille, France",
"RADEME, EA 7364, Lille University, Lille, France"
],
"type": "Organization"
},
"familyName": "Escande",
"givenName": "Fabienne",
"id": "sg:person.01367460076.43",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367460076.43"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Regional et Universitaire de Lille",
"id": "https://www.grid.ac/institutes/grid.410463.4",
"name": [
"Institut de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Lille, Lille, France"
],
"type": "Organization"
},
"familyName": "Andrieux",
"givenName": "Joris",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Regional et Universitaire de Lille",
"id": "https://www.grid.ac/institutes/grid.410463.4",
"name": [
"RADEME, EA 7364, Lille University, Lille, France",
"Clinique de G\u00e9n\u00e9tique Guy Fontaine, CHU Lille, Lille, France"
],
"type": "Organization"
},
"familyName": "Petit",
"givenName": "Florence",
"id": "sg:person.01071175547.04",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071175547.04"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Poznan University of Medical Sciences",
"id": "https://www.grid.ac/institutes/grid.22254.33",
"name": [
"Department of Medical Genetics, University of Medical Sciences, Poznan, Poland"
],
"type": "Organization"
},
"familyName": "Sowinska-Seidler",
"givenName": "Anna",
"id": "sg:person.01047535436.44",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047535436.44"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Poznan University of Medical Sciences",
"id": "https://www.grid.ac/institutes/grid.22254.33",
"name": [
"Department of Medical Genetics, University of Medical Sciences, Poznan, Poland"
],
"type": "Organization"
},
"familyName": "Socha",
"givenName": "Magdalena",
"id": "sg:person.0707134136.11",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0707134136.11"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Medical University of Bia\u0142ystok",
"id": "https://www.grid.ac/institutes/grid.48324.39",
"name": [
"Department of Pediatric Neurology and Rehabilitation, Medical University of Bialystok, Bialystok, Poland"
],
"type": "Organization"
},
"familyName": "Jakubiuk-Tomaszuk",
"givenName": "Anna",
"id": "sg:person.0600130203.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600130203.09"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Universitaire de Caen",
"id": "https://www.grid.ac/institutes/grid.411149.8",
"name": [
"Service de G\u00e9n\u00e9tique, CHU Caen, Caen, France"
],
"type": "Organization"
},
"familyName": "Gerard",
"givenName": "Marion",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Universitaire D' Amiens",
"id": "https://www.grid.ac/institutes/grid.134996.0",
"name": [
"Service de G\u00e9n\u00e9tique, H\u00f4pital Nord, CHU Amiens, Amiens, France"
],
"type": "Organization"
},
"familyName": "Mathieu-Dramard",
"givenName": "Mich\u00e8le",
"id": "sg:person.01204502206.51",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204502206.51"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Necker-Enfants Malades Hospital",
"id": "https://www.grid.ac/institutes/grid.412134.1",
"name": [
"Service de G\u00e9n\u00e9tique, Institut Imagine, H\u00f4pital Necker, Paris, France"
],
"type": "Organization"
},
"familyName": "Cormier-Daire",
"givenName": "Val\u00e9rie",
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Robert Debr\u00e9",
"id": "https://www.grid.ac/institutes/grid.413235.2",
"name": [
"Service de G\u00e9n\u00e9tique, H\u00f4pital Robert Debr\u00e9, Paris, France"
],
"type": "Organization"
},
"familyName": "Verloes",
"givenName": "Alain",
"id": "sg:person.01101231156.98",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101231156.98"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Universitaire de Tours",
"id": "https://www.grid.ac/institutes/grid.411167.4",
"name": [
"Service de G\u00e9n\u00e9tique, CHU Tours, Tours, France"
],
"type": "Organization"
},
"familyName": "Toutain",
"givenName": "Annick",
"id": "sg:person.0717621215.12",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717621215.12"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Universitaire de Caen",
"id": "https://www.grid.ac/institutes/grid.411149.8",
"name": [
"Service de G\u00e9n\u00e9tique, CHU Caen, Caen, France"
],
"type": "Organization"
},
"familyName": "Plessis",
"givenName": "Ghislaine",
"id": "sg:person.0660772135.22",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0660772135.22"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Universitaire de Nancy",
"id": "https://www.grid.ac/institutes/grid.410527.5",
"name": [
"Service de G\u00e9n\u00e9tique, CHU Nancy, Nancy, France"
],
"type": "Organization"
},
"familyName": "Jonveaux",
"givenName": "Philippe",
"id": "sg:person.01201435025.87",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201435025.87"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Robert Debr\u00e9",
"id": "https://www.grid.ac/institutes/grid.413235.2",
"name": [
"Service de G\u00e9n\u00e9tique, H\u00f4pital Robert Debr\u00e9, Paris, France"
],
"type": "Organization"
},
"familyName": "Baumann",
"givenName": "Clarisse",
"id": "sg:person.01165004051.12",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165004051.12"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Universitaire de Nantes",
"id": "https://www.grid.ac/institutes/grid.277151.7",
"name": [
"Service de G\u00e9n\u00e9tique, CHU Nantes, Nantes, France"
],
"type": "Organization"
},
"familyName": "David",
"givenName": "Albert",
"type": "Person"
},
{
"affiliation": {
"alternateName": "American University of Beirut Medical Center",
"id": "https://www.grid.ac/institutes/grid.411654.3",
"name": [
"American University of Beirut Medical Centre, Beirut, Lebanon"
],
"type": "Organization"
},
"familyName": "Farra",
"givenName": "Chantal",
"id": "sg:person.0667230706.60",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0667230706.60"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Universitaire de Angers",
"id": "https://www.grid.ac/institutes/grid.411147.6",
"name": [
"Service de G\u00e9n\u00e9tique, CHU Angers, Angers, France"
],
"type": "Organization"
},
"familyName": "Colin",
"givenName": "Estelle",
"id": "sg:person.01223272663.14",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01223272663.14"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Montreal",
"id": "https://www.grid.ac/institutes/grid.14848.31",
"name": [
"Department of Paediatrics, Faculty of Medicine, University of Montr\u00e9al, Montreal, Canada"
],
"type": "Organization"
},
"familyName": "Jacquemont",
"givenName": "S\u00e9bastien",
"type": "Person"
},
{
"affiliation": {
"name": [
"Laboratoire de Cytog\u00e9n\u00e9tique, EFS Normandie, Bois Guillaume, France"
],
"type": "Organization"
},
"familyName": "Rossi",
"givenName": "Annick",
"type": "Person"
},
{
"affiliation": {
"alternateName": "St George's, University of London",
"id": "https://www.grid.ac/institutes/grid.264200.2",
"name": [
"St. George\u2019s University of London, London, UK"
],
"type": "Organization"
},
"familyName": "Mansour",
"givenName": "Sahar",
"type": "Person"
},
{
"affiliation": {
"name": [
"North West Thames Regional Genetics Service, Harrow, UK"
],
"type": "Organization"
},
"familyName": "Ghali",
"givenName": "Neeti",
"id": "sg:person.0737767331.70",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737767331.70"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Marseille Public University Hospital System",
"id": "https://www.grid.ac/institutes/grid.414336.7",
"name": [
"Laboratoire de G\u00e9n\u00e9tique Chromosomique, CHU Marseille, Marseille, France"
],
"type": "Organization"
},
"familyName": "Moncla",
"givenName": "Anne",
"id": "sg:person.01112505345.42",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112505345.42"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "St George's, University of London",
"id": "https://www.grid.ac/institutes/grid.264200.2",
"name": [
"St. George\u2019s University of London, London, UK"
],
"type": "Organization"
},
"familyName": "Lahiri",
"givenName": "Nayana",
"id": "sg:person.01340076245.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340076245.09"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Great Ormond Street Hospital",
"id": "https://www.grid.ac/institutes/grid.420468.c",
"name": [
"Clinical Genetics, Great Ormond Street Hospital, London, UK"
],
"type": "Organization"
},
"familyName": "Hurst",
"givenName": "Jane",
"type": "Person"
},
{
"affiliation": {
"name": [
"Pathology Department, Queen Elizabeth Hospital, Woolwich, UK"
],
"type": "Organization"
},
"familyName": "Pollina",
"givenName": "Elena",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Guy's Hospital",
"id": "https://www.grid.ac/institutes/grid.239826.4",
"name": [
"Clinical Genetics, Guy\u2019s Hospital, London, UK"
],
"type": "Organization"
},
"familyName": "Patch",
"givenName": "Christine",
"id": "sg:person.01322103362.80",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322103362.80"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Guy's Hospital",
"id": "https://www.grid.ac/institutes/grid.239826.4",
"name": [
"Genetics Laboratories, Guy\u2019s Hospital, London, UK"
],
"type": "Organization"
},
"familyName": "Ahn",
"givenName": "Joo Wook",
"id": "sg:person.01101735753.00",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101735753.00"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Regional et Universitaire de Lille",
"id": "https://www.grid.ac/institutes/grid.410463.4",
"name": [
"Centre Pluridisciplinaire de Diagnostic Pr\u00e9natal, CHRU Lille, Lille, France"
],
"type": "Organization"
},
"familyName": "Valat",
"givenName": "Anne-Sylvie",
"id": "sg:person.01367715424.07",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367715424.07"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Regional et Universitaire de Lille",
"id": "https://www.grid.ac/institutes/grid.410463.4",
"name": [
"Service de Chirurgie Orthop\u00e9dique, CHRU Lille, Lille, France"
],
"type": "Organization"
},
"familyName": "Mezel",
"givenName": "Aur\u00e9lie",
"id": "sg:person.0744726357.17",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0744726357.17"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Regional et Universitaire de Lille",
"id": "https://www.grid.ac/institutes/grid.410463.4",
"name": [
"Centre Pluridisciplinaire de Diagnostic Pr\u00e9natal, CHRU Lille, Lille, France"
],
"type": "Organization"
},
"familyName": "Bourgeot",
"givenName": "Philippe",
"id": "sg:person.013031337367.40",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013031337367.40"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University College London",
"id": "https://www.grid.ac/institutes/grid.83440.3b",
"name": [
"Institute of Neurology, University College London, London, UK"
],
"type": "Organization"
},
"familyName": "Zhang",
"givenName": "David",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre Hospitalier Regional et Universitaire de Lille",
"id": "https://www.grid.ac/institutes/grid.410463.4",
"name": [
"RADEME, EA 7364, Lille University, Lille, France",
"Clinique de G\u00e9n\u00e9tique Guy Fontaine, CHU Lille, Lille, France"
],
"type": "Organization"
},
"familyName": "Manouvrier-Hanu",
"givenName": "Sylvie",
"id": "sg:person.01167413553.78",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167413553.78"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/12709",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001758524",
"https://doi.org/10.1038/12709"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/12709",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001758524",
"https://doi.org/10.1038/12709"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/ddg212",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004477663"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.semcdb.2016.01.015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005050063"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.semcdb.2016.01.015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005050063"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.semcdb.2016.01.015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005050063"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.semcdb.2016.01.015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005050063"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00439-005-0074-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008637917",
"https://doi.org/10.1007/s00439-005-0074-0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00439-005-0074-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008637917",
"https://doi.org/10.1007/s00439-005-0074-0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00439-005-0074-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008637917",
"https://doi.org/10.1007/s00439-005-0074-0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00335-008-9106-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008949985",
"https://doi.org/10.1007/s00335-008-9106-0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00335-008-9106-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008949985",
"https://doi.org/10.1007/s00335-008-9106-0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.31247",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009469146"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00496078",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011016966",
"https://doi.org/10.1007/bf00496078"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00496078",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011016966",
"https://doi.org/10.1007/bf00496078"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmg.2008.065888",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1012553075"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmg.33.6.507",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013508857"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1034/j.1399-0004.2003.00153.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018362589"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/ddg090",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019876460"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00716995",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022814190",
"https://doi.org/10.1007/bf00716995"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/1755-8166-3-19",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024223009",
"https://doi.org/10.1186/1755-8166-3-19"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1534/genetics.104.036871",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026344952"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1534/genetics.104.036871",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026344952"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/1096-8628(20010722)102:1<73::aid-ajmg1419>3.0.co;2-h",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026620554"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1101/gad.13.5.505",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027635862"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1006/geno.1995.9981",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1028137818"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s13353-013-0178-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1028448437",
"https://doi.org/10.1007/s13353-013-0178-5"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmg.33.12.996",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032967573"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1399-0004.2005.00530.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034068874"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1399-0004.2005.00530.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034068874"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/pd.1080",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036299013"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmedgenet-2011-100409",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037406206"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.35644",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039054451"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.3390/microarrays5010002",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040515751"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320470715",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040659566"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320470715",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040659566"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.tig.2004.05.001",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041124638"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.31246",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043430012"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13023-014-0108-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044504762",
"https://doi.org/10.1186/s13023-014-0108-6"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320320323",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044629872"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320320323",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044629872"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1399-0004.1995.tb03930.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050592956"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/(sici)1096-9926(199710)56:4<262::aid-tera5>3.0.co;2-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052267279"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/82609",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053535235",
"https://doi.org/10.1038/82609"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/82609",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053535235",
"https://doi.org/10.1038/82609"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320560102",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053716465"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320560102",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053716465"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/302467",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058610041"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/323123",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058624048"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/338921",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058638007"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1077235039",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1078388864",
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/jhg.2017.56",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1085583117",
"https://doi.org/10.1038/jhg.2017.56"
],
"type": "CreativeWork"
}
],
"datePublished": "2019-04",
"datePublishedReg": "2019-04-01",
"description": "Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13). Duplications at 17p13.3 are seen in SHFM when isolated or associated with long bone deficiency. Tandem genomic duplications at chromosome 10q24 involving at least the DACTYLIN gene are associated with SHFM3. No point variant in any of the genes residing within the region has been identified so far, but duplication of exon 1 of the BTRC gene may explain the phenotype, with likely complex alterations of gene regulation mechanisms that would impair limb morphogenesis. We report on 32 new index cases identified by array-CGH and/or by qPCR, including some prenatal ones, leading to termination for the most severe. Twenty-two cases were presenting with SHFM and 7 with monodactyly only. Three had an overlapping phenotype. Additional findings were identified in 5 (renal dysplasia, cutis aplasia, hypogonadism and agenesis of corpus callosum with hydrocephalus). We present their clinical and radiological findings and review the literature on this rearrangement that seems to be one of the most frequent cause of SHFM.",
"genre": "research_article",
"id": "sg:pub.10.1038/s41431-018-0326-9",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isFundedItemOf": [
{
"id": "sg:grant.7393600",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.7394591",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.7400586",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1103410",
"issn": [
"1018-4813",
"1476-5438"
],
"name": "European Journal of Human Genetics",
"type": "Periodical"
},
{
"issueNumber": "4",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "27"
}
],
"name": "Duplication of 10q24 locus: broadening the clinical and radiological spectrum",
"pagination": "525-534",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"5967db8444c3d39f1d428c2587d5f162711e17879cb1aa20aca98e787f105b5d"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"30622331"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"9302235"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s41431-018-0326-9"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1111261104"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s41431-018-0326-9",
"https://app.dimensions.ai/details/publication/pub.1111261104"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T13:19",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000368_0000000368/records_78959_00000001.jsonl",
"type": "ScholarlyArticle",
"url": "https://www.nature.com/articles/s41431-018-0326-9"
}
]
Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41431-018-0326-9'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41431-018-0326-9'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41431-018-0326-9'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41431-018-0326-9'
This table displays all metadata directly associated to this object as RDF triples.
483 TRIPLES
21 PREDICATES
68 URIs
21 LITERALS
9 BLANK NODES