Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

Alopecia with mental retardation (APMR) is a very rare disorder. In this study, we report on a consanguineous Pakistani family (AP91) with mild-to-moderate intellectual disability, adolescent alopecia and dentogingival abnormalities. Using homozygosity mapping, linkage analysis and exome sequencing,...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Ansar, Muhammad, Jan, Abid, Santos-Cortez, Regie Lyn P, Wang, Xin, Suliman, Muhammad, Acharya, Anushree, Habib, Rabia, Abbe, Izoduwa, Ali, Ghazanfar, Lee, Kwanghyuk, Smith, Joshua D, Nickerson, Deborah A, Shendure, Jay, Bamshad, Michael J, Ahmad, Wasim, Leal, Suzanne M
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4970676/
https://ncbi.nlm.nih.gov/pubmed/26695873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.260
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados