Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.
Leonard
N J
NJ
Department of Medical Genetics, 8-53 Medical Sciences Building, University of Alberta Hospital, Edmonton, Alberta, Canada T6G 2H7. nleonard@cha.ab.ca
Krol
A L
AL
Bleoo
S
S
Somerville
M J
MJ
D001483:Base Sequence; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D005385:Fingers; D018628:Gene Dosage; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D020125:Mutation, Missense
D017630:Connexins; D017931:DNA Primers; C000607042:GJB2 protein, human; D000072259:Connexin 26