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

Yasuhiro Arai; Masahiro Takahashi; Naoko Sakuma; Shin-Ya Nisio; Nobuhiko Oridate; Shin-Ichi Usami

Journal ArticleOPEN ACCESS

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

Arai Y
Takahashi M
Sakuma N
et al.

Acta Oto-Laryngologica Case Reports (2017) 2(1) 137-140

DOI: 10.1080/23772484.2017.1376587

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Abstract

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 (DF...

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APA

Arai, Y., Takahashi, M., Sakuma, N., Nisio, S.-Y., Oridate, N., & Usami, S.-I. (2017). Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma. Acta Oto-Laryngologica Case Reports, 2(1), 137–140. https://doi.org/10.1080/23772484.2017.1376587

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

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