Deafness is a complex disorder that involves a high number of genes and environmental
factors. There has been enormous progress in non‐syndromic deafness research during the …

GJB2 mutations are major causes of autosomal recessive nonsyndromic hearing loss
(ARNSHL) in many populations. However, a few mutations have an ethnic-specific …

Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal
recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene …

Fifty to eighty percent of autosomal recessive congenital severe to profound hearing
impairment result from mutations in a single gene, GJB2, that encodes the protein connexin …

Mutations in the GJB2 gene have been identified in many patients with childhood deafness,
35delG being the most common mutation in Caucasoid populations. We have analyzed a …

Mutations in the GJB2 gene (connexin 26) are the major cause of autosomal recessive non-
syndromic hearing impairment in many populations. In contrast to the volume of information …

Mutations in the GJB2 gene encoding connexin 26 (Cx26) are a major cause of autosomal
recessive and sporadic cases of congenital deafness in most populations. The 235delC …

Mutations in genes encoding gap‐and tight‐junction proteins have been shown to cause
distinct forms of hearing loss. We have now determined the GJB2 [connexin 26 (Cx26)] …

Mutations of GJB2 (encoding connexin 26) are the most common cause of hearing loss (HL)
in different populations, and a broad spectrum of GJB2 mutations has been identified. We …

Recessive variants in GJB2 are the most common genetic cause of sensorineural hearing
impairment. However, in many patients, only one variant in the GJB2 coding region is …