Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. It is due to AQP5 heterozygous mutations. We report four patients carrying a...

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Detalles Bibliográficos
Autores principales: Fertitta, Laura, Charbit-Henrion, Fabienne, Leclerc-Mercier, Stéphanie, Nguyen-Khoa, Thao, Baran, Robert, Alby, Caroline, Steffann, Julie, Sermet-Gaudelus, Isabelle, Hadj-Rabia, Smail
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777635/
https://www.ncbi.nlm.nih.gov/pubmed/36553627
http://dx.doi.org/10.3390/genes13122360

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777635/
https://www.ncbi.nlm.nih.gov/pubmed/36553627
http://dx.doi.org/10.3390/genes13122360

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