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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Fotiou, Elisavet; Martin-Almedina, Silvia; Simpson, Michael A; Lin, Shin; Gordon, Kristiana; Brice, Glen; Atton, Giles; Jeffery, Iona; Rees, David C; Mignot, Cyril; Vogt, Julie; Homfray, Tessa; Snyder, Michael P; Rockson, Stanley G; Jeffery, Steve; Mortimer, Peter S; Mansour, Sahar; Ostergaard, Pia.
Afiliação
  • Fotiou E; Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Martin-Almedina S; Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Simpson MA; Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guy's Hospital, London SE1 9RY, UK.
  • Lin S; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
  • Gordon K; Department of Genetics, Stanford University, Stanford, California 94305, USA.
  • Brice G; Department of Dermatology, St. George's Healthcare NHS Trust, London SW17 0QT, UK.
  • Atton G; South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.
  • Jeffery I; South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.
  • Rees DC; Pathology Department, St. George's University of London, London SW17 0RE, UK.
  • Mignot C; Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital, London SE5 9RS, UK.
  • Vogt J; Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, 75013 Paris, France.
  • Homfray T; West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
  • Snyder MP; South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.
  • Rockson SG; Department of Genetics, Stanford University, Stanford, California 94305, USA.
  • Jeffery S; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
  • Mortimer PS; Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Mansour S; Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Ostergaard P; South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.
Nat Commun ; 6: 8085, 2015 Sep 03.
Article em En | MEDLINE | ID: mdl-26333996
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hidropisia Fetal / Anormalidades Craniofaciais / Anemia Hemolítica Congênita / Canais Iônicos / Linfangiectasia Intestinal / Linfedema Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hidropisia Fetal / Anormalidades Craniofaciais / Anemia Hemolítica Congênita / Canais Iônicos / Linfangiectasia Intestinal / Linfedema Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido