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A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Marek-Yagel, Dina; Bolkier, Yoav; Barel, Ortal; Vardi, Amir; Mishali, David; Katz, Uriel; Salem, Yishay; Abudi, Shachar; Nayshool, Omri; Kol, Nitzan; Raas-Rothschild, Annick; Rechavi, Gideon; Anikster, Yair; Pode-Shakked, Ben.
Afiliação
  • Marek-Yagel D; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Bolkier Y; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Barel O; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Vardi A; Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Mishali D; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Katz U; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Salem Y; Department of Pediatric Cardiac Intensive Care, Edmond Safra International Congenital Heart Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Abudi S; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Nayshool O; Department of Pediatric Cardiac Intensive Care, Edmond Safra International Congenital Heart Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Kol N; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Raas-Rothschild A; Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Rechavi G; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Anikster Y; Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
Am J Med Genet A ; 182(5): 987-993, 2020 05.
Article em En | MEDLINE | ID: mdl-32144877
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Fator 1 de Diferenciação de Crescimento / Estudos de Associação Genética / Cardiopatias Congênitas Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Fator 1 de Diferenciação de Crescimento / Estudos de Associação Genética / Cardiopatias Congênitas Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Ano de publicação: 2020 Tipo de documento: Article