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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Muir, Alison M; Cohen, Jennifer L; Sheppard, Sarah E; Guttipatti, Pavithran; Lo, Tsz Y; Weed, Natalie; Doherty, Dan; DeMarzo, Danielle; Fagerberg, Christina R; Kjærsgaard, Lars; Larsen, Martin J; Rump, Patrick; Löhner, Katharina; Hirsch, Yoel; Zeevi, David A; Zackai, Elaine H; Bhoj, Elizabeth; Song, Yuanquan; Mefford, Heather C.
Afiliação
  • Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
  • Cohen JL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Guttipatti P; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Lo TY; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Weed N; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
  • Doherty D; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
  • DeMarzo D; Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73104, USA.
  • Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Denmark.
  • Kjærsgaard L; Hans Christian Andersen Children's Hospital, Odense University Hospital, Denmark.
  • Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Denmark.
  • Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Löhner K; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Hirsch Y; The Committee for Prevention of Jewish Genetic Diseases, Dor Yeshorim, Jerusalem, Israel.
  • Zeevi DA; The Committee for Prevention of Jewish Genetic Diseases, Dor Yeshorim, Jerusalem, Israel.
  • Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Bhoj E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: songy2@email.chop.edu.
  • Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.
Am J Hum Genet ; 106(5): 623-631, 2020 05 07.
Article em En | MEDLINE | ID: mdl-32275884
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Anormalidades do Olho / Complexo de Proteínas Formadoras de Poros Nucleares / Proteínas de Drosophila / Alelos / Mutação com Perda de Função / Cardiopatias Congênitas Limite: Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Anormalidades do Olho / Complexo de Proteínas Formadoras de Poros Nucleares / Proteínas de Drosophila / Alelos / Mutação com Perda de Função / Cardiopatias Congênitas Limite: Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos