A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.
Gonçalves S, et al. Among authors: arrondel c.
PLoS Genet. 2018 May 16;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. eCollection 2018 May.
PLoS Genet. 2018.
PMID: 29768408
Free PMC article.