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Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.

Piers A BlomberyGeorgina L RylandLucy Claire FoxZornitza StarkMeg WallAnna JarmolowiczAin RoesleyElla R ThompsonSean M GrimmondShyam PanickerFiona Kwok
Published in: British journal of haematology (2022)
Keyphrases
  • circulating tumor
  • high grade
  • dna methylation
  • cell free
  • intellectual disability
  • dna repair
  • single molecule
  • case report
  • binding protein
  • nucleic acid
  • gene expression
  • dna damage