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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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| Pubblicato in: | J Med Genet |
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| Autori principali: | , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2015
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| Soggetti: | |
| Accesso online: | 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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