Ontology type: schema:ScholarlyArticle Open Access: True
2016-12
AUTHORSViviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, Patricio Craig, Vanesa Lotersztein, Keith Choate, Norma Pallares, Vicente Diamante, Ana Belén Elgoyhen
ABSTRACTBACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described. CASE PRESENTATION: We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution. CONCLUSION: This is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice. More... »
PAGES37
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DOIhttp://dx.doi.org/10.1186/s12881-016-0298-y
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"description": "BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described.\nCASE PRESENTATION: We studied a 2\u00a0year-old boy with bilateral congenital sensorineural deafness with dry skin over the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution.\nCONCLUSION: This is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice.",
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},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1040232066"
]
}
],
"sameAs": [
"https://doi.org/10.1186/s12881-016-0298-y",
"https://app.dimensions.ai/details/publication/pub.1040232066"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-10T22:32",
"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/v90/0000000001_0000000264/records_8690_00000514.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1186%2Fs12881-016-0298-y"
}
]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.10.1186/s12881-016-0298-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.10.1186/s12881-016-0298-y'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12881-016-0298-y'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12881-016-0298-y'
This table displays all metadata directly associated to this object as RDF triples.
322 TRIPLES
21 PREDICATES
84 URIs
30 LITERALS
18 BLANK NODES