Ontology type: schema:ScholarlyArticle
2016-12
AUTHORSANGELOS ALEXANDROU, IOANNIS PAPAEVRIPIDOU, KYRIAKOS TSANGARAS, IOANNA ALEXANDROU, MARIOS TRYFONIDIS, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU, ELENI ZAMBA-PAPANICOLAOU, GEORGE KOUMBARIS, VASSOS NEOCLEOUS, LEONIDAS A. PHYLACTOU, NICOS SKORDIS, GEORGE A. TANTELES, CAROLINA SISMANI
ABSTRACTHaploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. Here, we present the clinical and molecular data as well as the potential molecular mechanism underlying a novel microdeletion, causing a variable SHOX-related haploinsufficiency disorder in a three-generation family. The phenotype resembles that of LWD in females, in males, however, the phenotypic expression is milder. The 15523-bp SHOX intragenic deletion, encompassing exons 3-6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism. More... »
PAGES839-845
http://scigraph.springernature.com/pub.10.1007/s12041-016-0698-y
DOIhttp://dx.doi.org/10.1007/s12041-016-0698-y
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/27994182
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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.10.1007/s12041-016-0698-y'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s12041-016-0698-y'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s12041-016-0698-y'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s12041-016-0698-y'
This table displays all metadata directly associated to this object as RDF triples.
358 TRIPLES
21 PREDICATES
82 URIs
42 LITERALS
30 BLANK NODES