Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia

Genetic investigation of inherited skin disorders has informed understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease characterized by transient figurate patches of erythema, localized or gener...

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Detalles Bibliográficos
Autores principales: Boyden, Lynn M., Craiglow, Brittany G., Zhou, Jing, Hu, Ronghua, Loring, Erin C., Morel, Kimberly D., Lauren, Christine T., Lifton, Richard P., Bilguvar, Kaya, Paller, Amy S., Choate, Keith A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430428/
https://www.ncbi.nlm.nih.gov/pubmed/25398053
http://dx.doi.org/10.1038/jid.2014.485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430428/
https://www.ncbi.nlm.nih.gov/pubmed/25398053
http://dx.doi.org/10.1038/jid.2014.485

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