Article
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.
The British journal of dermatology - 1 Jan 2011
de Zwart-Storm E A, van Geel M, Veysey E, Burge S, Cooper S, Steijlen P M, Martin P E, van Steensel M A M
Abstract excerpt
Gap junctions are intercellular channels which are permeable to ions and small molecules up to about 1 kDa in size. They are prominent in the skin, but their precise function there is largely unknown. Mutations in skin-expressed gap junction genes disrupt epidermal growth and differentiation. A relatively minor epidermal connexin, connexin 26 (Cx26), is associated with a wide variety of phenotypes, each...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.