A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.
Akiyama
Masashi
M
Sakai
Kaori
K
Arita
Ken
K
Nomura
Yukiko
Y
Ito
Kei
K
Kodama
Kazuo
K
McMillan
James R
JR
Kobayashi
Kinuko
K
Sawamura
Daisuke
D
Shimizu
Hiroshi
H
D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D006226:Hand Deformities / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D017354:Point Mutation
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26