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Genetic characteristics of Arboleda-Tham syndrome caused by lysine acetyltransferase 6A gene KAT6A mutation: A report of 13 cases and review of the literature
ZHANG Xi, LIU Lian, WU Bingbing, Li Huiping, WANG Sujuan, WANG Huijun
Chinese Journal of Evidence-Based Pediatrics . 2025, (1): 48 -53 .  DOI: 10.3969/j.issn.1673-5501.2025.01.008