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,...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Short Report
Accés en línia: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
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