赖氨酸乙酰转移酶6A(KAT6A)基因突变致Arboleda-Tham综合征13例病例系列报告并文献复习
张曦 刘恋 吴冰冰 李慧萍 王素娟 王慧君
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
中国循证儿科杂志 . 2025, (1): 48 -53 .  DOI: 10.3969/j.issn.1673-5501.2025.01.008