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A novel case of global developmental delay syndrome with microdeletion at 10p14-p15.3 and microduplication at 18p11.31-p11.32.
Zhang, Danyan; Zhu, Yijian; Feng, Xuefei; Dai, Limeng; Ma, Mingfu; Li, Lianbing; Guo, Hong; Zhao, Letian; Zhang, Yuping; Bai, Yun.
Afiliação
  • Zhang D; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University).
  • Zhu Y; Population and Family Planning Science and Technology Research Institute/Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission.
  • Feng X; Population and Family Planning Science and Technology Research Institute/Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission.
  • Dai L; Department of Pediatrics, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, PR China.
  • Ma M; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University).
  • Li L; Population and Family Planning Science and Technology Research Institute/Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission.
  • Guo H; Population and Family Planning Science and Technology Research Institute/Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission.
  • Zhao L; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University).
  • Zhang Y; Population and Family Planning Science and Technology Research Institute/Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission.
  • Bai Y; Department of Pediatrics, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, PR China.
Medicine (Baltimore) ; 98(15): e15146, 2019 Apr.
Article em En | MEDLINE | ID: mdl-30985688

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Deficiências do Desenvolvimento / Deleção Cromossômica / Duplicação Cromossômica Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: Medicine (Baltimore) Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Deficiências do Desenvolvimento / Deleção Cromossômica / Duplicação Cromossômica Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: Medicine (Baltimore) Ano de publicação: 2019 Tipo de documento: Article