Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
Doll J, Vona B, Schnapp L, Rüschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, Kühlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, Röder T, Dittrich M, Müller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T.
Doll J, et al.
Genes (Basel). 2020 Nov 11;11(11):1329. doi: 10.3390/genes11111329.
Genes (Basel). 2020.
PMID: 33187236
Free PMC article.
A combined exome sequencing, bioinformatics analysis, and gene mapping approach for 21 consanguineous Pakistani families revealed 13 pathogenic or likely pathogenic variants in the genes GJB2, MYO7A, FGF3, CDC14A, SLITRK6, CDH23, and MYO15A, with an overall resolve rate of …
A combined exome sequencing, bioinformatics analysis, and gene mapping approach for 21 consanguineous Pakistani families revealed 13 pathoge …