Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.

Safoura ZardadiEhsan RazmaraGolareh AsgaritarghiEhsan Jafarinia Fatemeh BitarafanSima RayatNavid AlmadaniSaeid MorovvatiMasoud Garshasbi

Published in: Molecular genetics & genomic medicine (2020)

These findings can, in turn, endorse how TMC1 and CDH23 screening is critical to detecting HL in Iranian patients. Identifying TMC1 and CDH23 pathogenic variants doubtlessly help in the detailed genotypic characterization of HL.

Keyphrases

end stage renal disease
copy number
hearing loss
ejection fraction
chronic kidney disease
prognostic factors
genome wide
gene expression
intellectual disability
sensitive detection
quantum dots