Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify...

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Autors principals: Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Günter, Wenzel, Jörg, Größer, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmüller, Janine, Rütten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nürnberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, Betz, Regina C.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3882728/
https://ncbi.nlm.nih.gov/pubmed/24387993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.12.003
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