A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia

Monogenic disorders offer unique opportunities for researchers to shed light upon fundamental physiological processes in humans. We investigated a large family affected with autosomal-dominant adermatoglyphia (absence of fingerprints) also known as the “immigration delay disease.” Using linkage and...

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Detalhes bibliográficos
Main Authors: Nousbeck, Janna, Burger, Bettina, Fuchs-Telem, Dana, Pavlovsky, Mor, Fenig, Shlomit, Sarig, Ofer, Itin, Peter, Sprecher, Eli
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155166/
https://ncbi.nlm.nih.gov/pubmed/21820097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.07.004
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