Ontology highlight
ABSTRACT:
SUBMITTER: Boyden LM
PROVIDER: S-EPMC4430428 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Boyden Lynn M LM Craiglow Brittany G BG Zhou Jing J Hu Ronghua R Loring Erin C EC Morel Kimberly D KD Lauren Christine T CT Lifton Richard P RP Bilguvar Kaya K Paller Amy S AS Choate Keith A KA
The Journal of investigative dermatology 20141114 6
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 missense mutations in GJA1 (gap junction protein alpha 1) cause EKVP. The severe, pro ...[more]