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dc.contributor.authorSalas-Alanís, JCen_US
dc.contributor.authorScott, CAen_US
dc.contributor.authorFajardo-Ramírez, ORen_US
dc.contributor.authorDuran, Cen_US
dc.contributor.authorMoreno-Treviño, MGen_US
dc.contributor.authorKelsell, DPen_US
dc.date.accessioned2016-11-03T11:16:52Z
dc.date.available2016-04-13en_US
dc.date.issued2016-07en_US
dc.date.submitted2016-10-25T15:20:06.878Z
dc.identifier.issn1661-8769en_US
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/16265
dc.description.abstractGAPO 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.extent160 - 163en_US
dc.languageengen_US
dc.relation.ispartofMol Syndromolen_US
dc.subjectANTXR1 mutationen_US
dc.subjectAlopeciaen_US
dc.subjectGrowth retardationen_US
dc.subjectOptic atrophyen_US
dc.subjectPseudoanodontiaen_US
dc.titleNew ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.en_US
dc.typeArticle
dc.rights.holder© 2016 S. Karger AG, Basel
dc.identifier.doi10.1159/000446619en_US
pubs.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/27587992en_US
pubs.issue3en_US
pubs.notesNot knownen_US
pubs.notesthis is submitted version with track changes at editors requesten_US
pubs.organisational-group/Queen Mary University of London
pubs.organisational-group/Queen Mary University of London/Faculty of Medicine & Dentistry
pubs.organisational-group/Queen Mary University of London/Faculty of Medicine & Dentistry/Blizard Institute
pubs.organisational-group/Queen Mary University of London/Faculty of Medicine & Dentistry/Blizard Institute/Cell Biology and Cutaneous Research
pubs.organisational-group/Queen Mary University of London/REF
pubs.organisational-group/Queen Mary University of London/REF/REF - SMD - Blizard
pubs.organisational-group/Queen Mary University of London/REF/REF - UoA 01
pubs.publication-statusPublisheden_US
pubs.volume7en_US
dcterms.dateAccepted2016-04-13en_US


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