title: D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome.
authors.forename: Ying
authors.initials: Y
authors.lastname: Qiu
authors.forename: Zhanxiang
authors.initials: Z
authors.lastname: Wang
authors.forename: Nan
authors.initials: N
authors.lastname: Chen
authors.forename: Yali
authors.initials: Y
authors.lastname: Song
authors.forename: Zhenying
authors.initials: Z
authors.lastname: Wang
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26