Login / Signup

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.

Xinyi YangZitong ZhaoChun WangWenxuan WangLu Zhang
Published in: Genes & genomics (2024)
Our findings expand the mutational and phenotypic spectrum of genes associated with congenital cataracts and provide clues to the pathogenesis of congenital cataracts. These data also demonstrate the importance of NGS technology for the molecular diagnosis of congenital cataract patients.
Keyphrases
  • end stage renal disease
  • chronic kidney disease
  • ejection fraction
  • newly diagnosed
  • prognostic factors
  • peritoneal dialysis
  • gene expression
  • big data
  • copy number
  • patient reported outcomes
  • single molecule
  • cell free