A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.

Akiyama, Masashi

A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. [electronic resource] - The Journal of investigative dermatology Jun 2007 - 1540-3 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1523-1747

10.1038/sj.jid.5700711 doi


Child
Connexin 26
Connexins--genetics
Hand Deformities--genetics
Hearing Loss, Sensorineural--genetics
Humans
Keratoderma, Palmoplantar--genetics
Male
Point Mutation