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A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family.

Khalid KhanXiangjun ZhangSobia DilIhsan KhanAhsanullah UnarJingwei YeAurang ZebMuhammad ZubairWasim ShahHuan ZhangMuzammil Ahmad KhanLimin WuBo XuHui MaZina WenQinghua Shi
Published in: Basic and clinical andrology (2024)
Altogether, our study identifies a novel TSGA10 pathogenic variant as a cause of acephalic spermatozoa syndrome in this family and provides information regarding the clinical manifestations associated with TSGA10 variants in human.
Keyphrases
  • endothelial cells
  • case report
  • genome wide
  • copy number
  • intellectual disability
  • induced pluripotent stem cells
  • health information
  • pluripotent stem cells