Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal dominant non-syndromic hearing loss (DFNA3). In addit...

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Bibliographic Details
Main Authors: Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami
Format: Article
Language:English
Published: Taylor & Francis Group 2017-01-01
Series:Acta Oto-Laryngologica Case Reports
Subjects:
GJB2
hearing loss
palmoplantar keratoderma
autosomal dominant
autosomal recessive
Online Access:http://dx.doi.org/10.1080/23772484.2017.1376587

Internet

http://dx.doi.org/10.1080/23772484.2017.1376587

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