A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome

作者: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
来源:British Journal of Dermatology, 2011, 164(1): 197-199.
DOI:10.1111/j.1365-2133.2010.10058.x