Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease

Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1 mutations. About 180 distinct mutations have been identi...

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Detalles Bibliográficos
Autores principales: Sawicka, J., Kutkowska-Kaźmierczak, A., Woźniak, K., Tysarowski, A., Osipowicz, K., Poznański, J., Rygiel, A. M., Braun-Walicka, N., Niepokój, K., Bal, J., Kowalewski, C., Wertheim-Tysarowska, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148260/
https://www.ncbi.nlm.nih.gov/pubmed/31983024
http://dx.doi.org/10.1007/s13353-020-00538-8

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