Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding pr...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Ralser, Damian J., Basmanav, F. Buket Ü., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michélle, Pulimood, Susanne A., Altmüller, Janine, Nürnberg, Peter, Lacombe, Didier, Hillen, Uwe, Wenzel, Jörg, Frank, Jorge, Odermatt, Benjamin, Betz, Regina C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2017
Assuntos:
Brief Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5373890/
https://ncbi.nlm.nih.gov/pubmed/28287404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI90667
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