A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma.
D000293:Adolescent; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001301:Audiometry, Pure-Tone; D001483:Base Sequence; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D013577:Syndrome
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26