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Two patients with KDM3B variants and new presentations of Diets-Jongmans syndrome.
Zhao, Xiangyue; Yu, Tingting; Tang, Jie; Yao, Ru-En; Li, Niu; Wang, Jian.
Afiliação
  • Zhao X; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.
  • Yu T; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.
  • Tang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.
  • Yao RE; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.
  • Li N; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.
  • Wang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China. Labwangjian@shsmu.edu.cn.
Neurogenetics ; 24(2): 95-101, 2023 04.
Article em En | MEDLINE | ID: mdl-36757469

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epigênese Genética / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epigênese Genética / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos