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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...

詳細記述

保存先:
書誌詳細
出版年:J Invest Dermatol
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4430428/
https://ncbi.nlm.nih.gov/pubmed/25398053
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2014.485
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