The novel R75Q mutation in theGJB2gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2002.620409.x/fullpdf
Reference19 articles.
1. Autosomal dominant nonsyndromic hearing impairment;Van Laer;Am J Med Genet,1999
2. Vohwinkel's syndrome and deafness;McGibbon;J Laryngol Otol,1977
3. Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations;Sharland;J Med Genet,1992
4. Connexin mutations in skin disease and hearing loss;Kelsell;Am J Hum Genet,2001
5. The palmoplantar keratodermas. much more than palms and soles;Kelsell;Mol Med Today,1999
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