dc.contributor.author | Salas-Alanís, JC | en_US |
dc.contributor.author | Scott, CA | en_US |
dc.contributor.author | Fajardo-Ramírez, OR | en_US |
dc.contributor.author | Duran, C | en_US |
dc.contributor.author | Moreno-Treviño, MG | en_US |
dc.contributor.author | Kelsell, DP | en_US |
dc.date.accessioned | 2016-11-03T11:16:52Z | |
dc.date.available | 2016-04-13 | en_US |
dc.date.issued | 2016-07 | en_US |
dc.date.submitted | 2016-10-25T15:20:06.878Z | |
dc.identifier.issn | 1661-8769 | en_US |
dc.identifier.uri | http://qmro.qmul.ac.uk/xmlui/handle/123456789/16265 | |
dc.description.abstract | GAPO syndrome is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy (GAPO). To date, only 30 cases have been described worldwide. Recently, gene alterations in the ANTXR1 gene have been reported to be causative of this disorder, and an autosomal recessive pattern has been observed. This gene encodes a matrix-interacting protein that works as an adhesion molecule. In this report, we describe 2 homozygous siblings diagnosed with GAPO syndrome carrying a new missense mutation. This mutation produces the substitution of a glutamine in position 137 for a leucine (c.410A>T, p.Q137L). | en_US |
dc.format.extent | 160 - 163 | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Mol Syndromol | en_US |
dc.subject | ANTXR1 mutation | en_US |
dc.subject | Alopecia | en_US |
dc.subject | Growth retardation | en_US |
dc.subject | Optic atrophy | en_US |
dc.subject | Pseudoanodontia | en_US |
dc.title | New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report. | en_US |
dc.type | Article | |
dc.rights.holder | © 2016 S. Karger AG, Basel | |
dc.identifier.doi | 10.1159/000446619 | en_US |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/27587992 | en_US |
pubs.issue | 3 | en_US |
pubs.notes | Not known | en_US |
pubs.notes | this is submitted version with track changes at editors request | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 7 | en_US |
dcterms.dateAccepted | 2016-04-13 | en_US |