Article
Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
Clinical genetics - 1 Dec 2020
Safka Brozkova Dana, Poisson Marková Simona, Mészárosová Anna Uhrová, Jenčík Ján, Čejnová Vlasta, Čada Zdeněk, Laštůvková Jana, Rašková Dagmar, Seeman Pavel
Abstract excerpt
Non-syndromic autosomal recessive hearing loss is an extremely heterogeneous disease caused by mutations in more than 80 genes. We examined Czech patients with early/prelingual non-syndromic, presumably genetic hearing loss (NSHL) without known cause after GJB2 gene testing. Four hundred and twenty-one unrelated patients were examined for STRC gene deletions with quantitative comparative fluorescent PCR (QCF...
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