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Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.

Shijing WuYinhui YuYao WangLi ZhangXiaoyun FangPanpan YeJian Ma
Published in: Ophthalmic genetics (2024)
We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.
Keyphrases
  • case report
  • transcription factor
  • endoplasmic reticulum stress
  • gene expression
  • copy number