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A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma

✍ Scribed by Yongyi Yuan; Deliang Huang; Fei Yu; Xiuhui Zhu; Dongyang Kang; Huijun Yuan; Dongyi Han; Pu Dai


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
338 KB
Volume
149A
Category
Article
ISSN
1552-4825

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## Abstract The __GJB2__ gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell–cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant nonsyndromic sensorineural hearing loss. __GJB