A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

The autosomal dominant Hailey Hailey disease (HHD) is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1) in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an...

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Detalles Bibliográficos
Autores principales: van Beek, Nina, Patsatsi, Aikaterini, Gupta, Yask, Möller, Steffen, Freitag, Miriam, Lemcke, Susanne, Recke, Andreas, Zillikens, Detlef, Schmidt, Enno, Ibrahim, Saleh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383578/
https://www.ncbi.nlm.nih.gov/pubmed/25837627
http://dx.doi.org/10.1371/journal.pone.0121253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383578/
https://www.ncbi.nlm.nih.gov/pubmed/25837627
http://dx.doi.org/10.1371/journal.pone.0121253

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