A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

BACKGROUND: Woolly hair (WH) is a hair abnormality that is primarily characterised by tightly curled hair with abnormal growth. METHODS: In two unrelated consanguineous Pakistani families with non-syndromic autosomal recessive (AR) WH, homozygosity mapping and linkage analysis identified a locus wit...

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Publicado en:J Med Genet
Main Authors: Ansar, Muhammad, Raza, Syed Irfan, Lee, Kwanghyuk, Irfanullah, Shahi, Shamim, Acharya, Anushree, Dai, Hang, Smith, Joshua D, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Santos-Cortez, Regie Lyn P, Ahmad, Wasim, Leal, Suzanne M
Formato: Artigo
Idioma:Inglês
Publicado: 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5090258/
https://ncbi.nlm.nih.gov/pubmed/26160856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103255
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