Article
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
American journal of medical genetics. Part A - 15 Feb 2009
Alexandrino Fabiana, de Oliveira Camila Andréa, Magalhães Renata F, Florence Michelle E B, de Souza Elemir M, Sartorato Edi Lúcia
Abstract excerpt
The connexins are a family of proteins whose major function is as part of the gap junctions of cell-to-cell channels. They are expressed in several tissues including brain, skin, and cochlea. Mutations in connexin genes play a major role in non-syndromic sensorineural deafness, but have been also described in individuals with variable dermatological features. In recent years, many genes responsible for hereditary...
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