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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
  • ejection fraction
  • chronic kidney disease
  • newly diagnosed
  • prognostic factors
  • electronic health record
  • patient reported outcomes
  • dna methylation
  • big data
  • genome wide
  • data analysis