Akiyama, Masashi <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1523-1747 
<br/><br/><label>Standard No.: </label>10.1038/sj.jid.5700711  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Connexin 26<br/>Connexins--genetics<br/>Hand Deformities--genetics<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Keratoderma, Palmoplantar--genetics<br/>Male<br/>Point Mutation