SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.-论文-万方医学网

第一作者： Yongjia,Yang

第一单位： The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China. yongjia727@aliyun.com.

作者： Yongjia,Yang ^[1] ; Yu,Zheng ^[2] ; Wangming,Li ^[3] ; Liping,Li ^[2] ; Ming,Tu ^[2] ; Liu,Zhao ^[2] ; Haibo,Mei ^[4] ; Guanghui,Zhu ^[4] ; Yimin,Zhu ^[5]

作者单位： The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China. yongjia727@aliyun.com. ^[1] The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China. ^[2] Department of Radiology, Hunan Children's Hospital, University of South China, Changsha, China. ^[3] Department of Orthopedics, Hunan Children's Hospital, University of South China, Changsha, China. ^[4] The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China. xiangeryiym@aliyun.com. ^[5] Hunan Institute of Emergency Medicine, Hunan People's Hospital, Changsha, China. xiangeryiym@aliyun.com. ^[6]

主题词青少年(Adolescent);成年人(Adult);等位基因(Alleles);儿童(Child);儿童, 学龄前(Child, Preschool);家庭(Family);女(雌)性(Female);基因频率(Gene Frequency);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);突变, 误义(Mutation, Missense);系谱(Pedigree);外显率(Penetrance);桡骨(Radius);序列分析, DNA(Sequence Analysis, DNA);Smad6蛋白质(Smad6 Protein);骨结合(Synostosis);尺骨(Ulna)

DOI 10.1038/s41436-019-0552-8

PMID 31138930

发布时间 2022-12-07

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SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.

Genetics in medicine

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Genetics in medicine

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SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.

Genetics in medicine

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Genetics in medicine

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