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 KwokPublished in: British journal of haematology (2022)