身材矮小合并短指(趾)畸形3例家系的基因突变与表型分析并文献复习
胡旭昀, 吴迪, 李孟婷, 陈佳佳, 李晓侨, 苏畅, 陈少科, 沈亦平, 巩纯秀
Gene mutations and clinical phenotypes in three families with short stature and brachydactyly and review of literature
Hu Xuyun, Wu Di, Li Mengting, Chen Jiajia, Li Xiaoqiao, Su Chang, Chen Shaoke, Shen Yiping, Gong Chunxiu
首都医科大学学报
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2018, (6): 937
-944
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DOI: 10.3969/j.issn.1006-7795.2018.06.025
