CREBBP基因末端外显子截断变异致Rubinstein-Taybi综合征:临床表型特征与比较分析
王艳蕊, 石伊洁, 张开创, 王晓强, 肖冰, 孙昱
Rubinstein-Taybi syndrome caused by truncating variants in the last exon of CREBBP gene: clinical phenotypic characteristics and comparative analysis
WANG Yanrui, SHI Yijie, ZHANG Kaichuang, WANG Xiaoqiang, XIAO Bing, SUN Yu
临床儿科杂志
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2026, (6): 524
-531
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DOI: 10.12372/jcp.2026.26e0297