Article
Overview of skin diseases linked to connexin gene mutations.
International journal of dermatology - 1 Feb 2014
Avshalumova Lyubov, Fabrikant Jordan, Koriakos Angie
Abstract excerpt
Mutations in skin-expressed connexin genes, such as connexins 26, 30, 30.3, 31, and 43, have been linked to several human hereditary diseases with multiple organ involvement. Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and...
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