Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.


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Bademci G., Foster J., Mahdieh N., Bonyadi M., Duman D., Cengiz F. B., ...Daha Fazla

Genetics in medicine : official journal of the American College of Medical Genetics, cilt.18, sa.4, ss.364-71, 2016 (SCI-Expanded) identifier identifier identifier

Özet

Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).