UBE2A基因大片段缺失致Nascimento型X连锁智力障碍大家系的病例分析并文献回顾
徐丹, 谢加阳, 张晓莉, 王梦月, 楚嫚嫚, 韩瑞, 王俊玲, 李小丽, 贾天明
A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of the UBE2A gene: a case report and literature review
Dan XU, Jia-Yang XIE, Xiao-Li ZHANG, Meng-Yue WANG, Man-Man CHU, Rui HAN, Jun-Ling WANG, Xiao-Li LI, Tian-Ming JIA
中国当代儿科杂志
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2025, (7): 859
-863
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DOI: 10.7499/j.issn.1008-8830.2412177