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[DOI] [PMC free article] [PubMed] [Google Scholar] Andrianarivelo ASaint-Jour EPousinha PFernandez SPPetitbon ADe Smedt-Peyrusse VHeck NOrtiz VAllichon MCKapps V, et al

18 Mutations in epigenetic-modifying enzymes, whether heterozygous or hemizygous, are commonly associated with congenital conditions, such as Rubinstein-Taybi syndrome, linked to mutations in the cyclic adenosine monophosphate-responsive element-binding protein (CREB)-binding protein (CBP) and its paralog, E1A-binding protein (P300), 19 immunodeficiency-centromeric instability-facial anomalies syndrome related to DNMT3B mutations, 20 and Kabuki syndrome due to mutations in lysine methyltransferase 2D (KMT2D)