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A novel missense pathogenic variant in the CYLD gene in a Chinese family with multiple familial trichoepithelioma.

Haisheng HuangWei HeYumeng WangChaolan PanQiaoyu CaoAnqi ZhaoQin ZengShucui WangQian Liu
Published in: International journal of dermatology (2024)
Keyphrases
  • intellectual disability
  • copy number
  • genome wide
  • early onset
  • genome wide identification
  • autism spectrum disorder
  • gene expression
  • dna methylation