Lemire G, Campeau PM, Lee BH; KAT6B Disorders. 2012 Dec 13 [Updated 2020 Jan 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020; PMID 23236640.
Yabumoto M et al. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021;9(10):E1809. PMID: 34519438.
Zhang LX et al. Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants. Genet Med. 2020;22(8):1338-1347. PMID: 32424177.
Link to the KAT6A/KAT6B Foundation: https://kat6a.org
KAT6B