Article
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
The Journal of investigative dermatology - 1 Jun 2015
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
Abstract excerpt
Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches of erythema, localized or generalized scaling, and frequent palmoplantar keratoderma. By using exome sequencing, we show that de novo...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.