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Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.

Feng HuQian LiJie ShiRu WangYongpeng ZhangXinyang CaoXin ZhangYa MaGe WangXiao-Yan Peng
Published in: European journal of ophthalmology (2023)
gene and inherited in an AD fashion.
Keyphrases
  • copy number
  • intellectual disability
  • genome wide
  • genome wide identification
  • gene expression
  • dna methylation
  • genome wide analysis