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Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
Shalata, Adel; Lauhasurayotin, Supanun; Leibovitz, Zvi; Li, Hongbing; Hebert, Diane; Dhanraj, Santhosh; Hadid, Yarin; Mahroum, Mohammed; Bajar, Jacob; Egenburg, Sandro; Arad, Ayala; Shohat, Mordechai; Haddad, Sami; Bakry, Hassan; Moshiri, Houtan; Scherer, Stephen W; Tzur, Shay; Dror, Yigal.
Afiliação
  • Shalata A; Pediatrics and Medical Genetics and The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa, Israel.
  • Lauhasurayotin S; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Leibovitz Z; Marrow Failure and Myelodysplasia Program, Division of Hematology/ Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Israel.
  • Li H; Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa, Israel.
  • Hebert D; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Dhanraj S; Marrow Failure and Myelodysplasia Program, Division of Hematology/ Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Israel.
  • Hadid Y; Division of Nephrology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mahroum M; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Bajar J; Marrow Failure and Myelodysplasia Program, Division of Hematology/ Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Israel.
  • Egenburg S; Pediatrics and Medical Genetics and The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa, Israel.
  • Arad A; Pediatrics and Medical Genetics and The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa, Israel.
  • Shohat M; Department of Pathology, Bnai Zion Medical Center, Haifa, Israel.
  • Haddad S; Department of Pathology, Bnai Zion Medical Center, Haifa, Israel.
  • Bakry H; Department of Pathology, Bnai Zion Medical Center, Haifa, Israel.
  • Moshiri H; Sheba Cancer Research Center, Sackler School of Medicine, Tel Aviva University, Maccabi Genetic Institute, Tel Aviv, Israel.
  • Scherer SW; Ultrasound unit, Obstetrics-Gynecology Department, Baruch Padeh Peoria Hospital, Tiberias, Israel.
  • Tzur S; Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa, Israel.
  • Dror Y; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Med Genet ; 56(5): 340-346, 2019 05.
Article em En | MEDLINE | ID: mdl-30327448
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Síndrome de Dandy-Walker / Proteínas de Transporte Vesicular / Alelos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2019 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: Fenótipo / Síndrome de Dandy-Walker / Proteínas de Transporte Vesicular / Alelos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2019 Tipo de documento: Article