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Noguchi M, Moriya F, Suekane S, Matsuoka K, Arai G, Matsueda S, et al

Not loosely correlated

3.2 Participants In total, 715 individuals with a molecularly confirmed genetic diagnosis were included in this study, comprising individuals with a germline mutation in epigenetic enzymes from the writers category according to Fahrner and Bjornsson 2019 (59), KMT2A (Wiedemann-Steiner syndrome, n=56) (6069), KMT2B (Childhood-onset dystonia 28 (DYT28), n=54) (70, 71), KMT2C (KMT2C-associated syndrome, n=82) (7274), KMT2D (Kabuki syndrome type 1, n=197) (7586), KMT2E (ODonnell-Luria-Rodan (ODLURO) syndrome, n=39) (87, 88), ASH1-like (ASH1L) histone methyltransferase mutations (intellectual disability autosomal dominant (MRAD) 52 syndrome, n=5) (89), Nuclear receptor-binding SET domain protein (NSD) NSD1 (Sotos syndrome, n=3) (90, 91), NSD2 (Wolf-Hirschhorn syndrome, n=39) (9299), PRDI-BF1 and RIZ domain-containing protein (PRDM) PRDM12 (Hereditary sensory and autonomic neuropathy, n=22) (100, 101), SET domain-containing protein (SETD) SETD1A (SETD1A-syndrome, n=16) (102, 103), SETD2 (LuscanLumish syndrome/Sotos-like syndrome, n=4) (104, 105), SETD5 (MRAD 23 syndrome, n=2) (106, 107), KMT5B mutations (MRAD 51 syndrome, n=7) (89)

Guidelines for the diagnosis and treatment of cobalamin and folate disorders

[PMID: 23782145] PubMed record related to this compound for laboratory literature review