DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

Known as: DEAFNESS, AUTOSOMAL RECESSIVE 1A, DFNB1A

An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by…

National Institutes of Health

Papers overview

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2018

Autosomal recessive deafness type 1A (DFNB1A) caused by mutations in the GJB2 gene (Cx26) is the main cause of nonsyndromic…

2017

Тhe DNA testing of autosomal recessive deafness type 1A (DFNB1A, MIM 220290) is complicated when deaf patients have only…