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Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.
Huang, Qinrong; Xiong, Hui; Tao, Zhe; Yue, FeiFei; Xiao, Nong.
Afiliação
  • Huang Q; Department of Rehabilitation Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, PR China. Electronic address: qinronghu
  • Xiong H; Department of Pediatrics, Peking University First Hospital, PR China.
  • Tao Z; Department of Neurology, Dalian Children's Hospital, Dalian Medical University, Liaoning, 116012, PR China.
  • Yue F; Department of Pediatrics, The Third Affiliated Hospital of Xinxiang Medical College, PR China.
  • Xiao N; Department of Rehabilitation Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, PR China. Electronic address: xiaonongw
Eur J Med Genet ; 64(9): 104289, 2021 Sep.
Article em En | MEDLINE | ID: mdl-34265435

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Histona-Lisina N-Metiltransferase / Anormalidades Craniofaciais / Cardiopatias Congênitas / Deficiência Intelectual Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Histona-Lisina N-Metiltransferase / Anormalidades Craniofaciais / Cardiopatias Congênitas / Deficiência Intelectual Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article