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A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family.

Junfeng ZhouChengbo LiangDuxin QingYongjun WangYuyong TanXiao-Liu Shi
Published in: Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva (2021)
when a FAP related desmoid tumor appears, the possibility of Gardner syndrome should be considered. This is the first largest deletion of the APC gene in the Chinese population associated with Gardner syndrome.
Keyphrases
  • case report
  • copy number
  • genome wide
  • gene expression
  • dna methylation
  • transcription factor