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Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.
Hu, Xuyun; Li, Hongdou; Gui, Baoheng; Xu, Yufei; Wang, Jin; Li, Niu; Su, Jiasun; Zhang, Shujie; Song, Yanning; Wang, Yi; Luo, Jingsi; Fan, Xin; Wang, Jian; Chen, Shaoke; Gong, Chunxiu; Shen, Yiping.
Afiliação
  • Hu X; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China.
  • Li H; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China.
  • Gui B; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China.
  • Xu Y; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China.
  • Wang J; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China.
  • Li N; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China.
  • Su J; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China.
  • Zhang S; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China.
  • Song Y; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, P.R. China; National Children's Medical Center, Beijing, PR China.
  • Wang Y; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, P.R. China; National Children's Medical Center, Beijing, PR China.
  • Luo J; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China.
  • Fan X; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China.
  • Wang J; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China.
  • Chen S; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China.
  • Gong C; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, P.R. China; National Children's Medical Center, Beijing, PR China. Electronic address: chunxiugong@sina.com.
  • Shen Y; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China; Division of Genetics and Genomics, Boston Children's
Clin Chim Acta ; 474: 159-164, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28969986
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Coluna Vertebral / China / Nanismo / Hipotonia Muscular Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Pregnancy País como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Coluna Vertebral / China / Nanismo / Hipotonia Muscular Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Pregnancy País como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article