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Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.

Hee Ji ChoiSumaira KanwalRashid HameedNasrin TamannaShazia PerveenHina MahreenWonseok SonKyung Suk LeeKi Wha Chung
Published in: Genes & genomics (2022)
This study identified biallelic mutations as the underlying cause of early onset DFNB in six Pakistani families. This study will be helpful in providing an exact molecular diagnosis and treatment of prelingual onset deafness patients.
Keyphrases
  • early onset
  • intellectual disability
  • end stage renal disease
  • late onset
  • newly diagnosed
  • ejection fraction
  • prognostic factors
  • peritoneal dialysis
  • density functional theory