Condition: DEAFNESS, AUTOSOMAL RECESSIVE 29


rs143797113 in CLDN14;LOC105369301 gene and DEAFNESS, AUTOSOMAL RECESSIVE 29 PMID 27838790 2017 A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

PMID 23235333 2013 Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.

PMID 22246673 2012 Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

PMID 11163249 2001 Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.