Chargement en cours...
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
We report a missense mutation in the connexin 26 gene (GJB2) in a family with an autosomal dominant syndrome of hearing loss and hyperkeratosis. The affected family members have high frequency, slowly progressive, bilateral, sensorineural hearing loss and palmoplantar hyperkeratosis. The mutation ca...
Enregistré dans:
| Auteurs principaux: | , , , |
|---|---|
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Group
2000
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734451/ https://ncbi.nlm.nih.gov/pubmed/10633135 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.1.50 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|