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

Safoura ZardadiEhsan RazmaraGolareh AsgaritarghiEhsan JafariniaFatemeh 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