TY  - GEN
AU  - Akiyama,Masashi
AU  - Sakai,Kaori
AU  - Arita,Ken
AU  - Nomura,Yukiko
AU  - Ito,Kei
AU  - Kodama,Kazuo
AU  - McMillan,James R
AU  - Kobayashi,Kinuko
AU  - Sawamura,Daisuke
AU  - Shimizu,Hiroshi
TI  - A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads
SN  - 1523-1747
PY  - 2007///0619
KW  - Child
KW  - Connexin 26
KW  - Connexins
KW  - genetics
KW  - Hand Deformities
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Keratoderma, Palmoplantar
KW  - Male
KW  - Point Mutation
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.jid.5700711
ER  -