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

Abstract

Mutations in the CLDN14 gene are known to cause autosomal recessive (AR) non-sydromic hearing loss (NSHL) at the DFNB29 locus on chromosome 21q22.13. As part of an ongoing study to localize and identify NSHL genes, the ARNSHL segregating in four Pakistani consanguineous families were mapped to the 21q22.13 region with either established or suggestive… (More)
DOI: 10.1002/ajmg.a.34407

3 Figures and Tables

Topics

  • Presentations referencing similar topics