KMT2A 基因变异致Wiedemann-Steiner 综合征3 例临床及遗传学分析

刘苏颖, 黎芳, 麻宏伟 - 临床儿科杂志, 2023 - jcp.xinhuamed.com.cn
Wiedemann-steiner syndrome with a de novo mutation in … a novel de novo KMT2A variant
in Wiedemann-Steiner syndrome [J]… with atypical manifestations of known intellectual disability …