title: A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
authors.forename: Kaori
authors.initials: K
authors.lastname: Sakai
authors.forename: Ken
authors.initials: K
authors.lastname: Arita
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Nomura
authors.forename: Kei
authors.initials: K
authors.lastname: Ito
authors.forename: Kazuo
authors.initials: K
authors.lastname: Kodama
authors.forename: James R
authors.initials: JR
authors.lastname: McMillan
authors.forename: Kinuko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
mesh_terms: 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
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26