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Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.

Jianhai ChenYangying JiaJie ZhongKun ZhangHongzheng DaiGuanglin HeFuping LiLi ZengChuanzhu FanHuayan Xu
Published in: Journal of medical genetics (2024)
gene mutation in causing cryptorchidism. The results also suggest that maternal-X inheritance of pathogenic defects could have a predominant role in the development of cryptorchidism.
Keyphrases
  • duchenne muscular dystrophy
  • muscular dystrophy
  • mitochondrial dna
  • copy number
  • transcription factor
  • birth weight
  • pregnancy outcomes
  • weight loss