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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.
Ta-Shma, Asaf; Khan, Tahir N; Vivante, Asaf; Willer, Jason R; Matak, Pavle; Jalas, Chaim; Pode-Shakked, Ben; Salem, Yishay; Anikster, Yair; Hildebrandt, Friedhelm; Katsanis, Nicholas; Elpeleg, Orly; Davis, Erica E.
Afiliação
  • Ta-Shma A; Department of Pediatric Cardiology, Hadassah Medical Center, Jerusalem 91120, Israel.
  • Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Vivante A; Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.
  • Willer JR; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Matak P; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Jalas C; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY 11204, USA.
  • Pode-Shakked B; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 6997801, Israel.
  • Salem Y; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 6997801, Israel.
  • Anikster Y; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 6997801, Israel.
  • Hildebrandt F; Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: katsanis@cellbio.duke.edu.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Jerusalem 91120, Israel. Electronic address: elpeleg@hadassah.org.il.
  • Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
Am J Hum Genet ; 100(4): 666-675, 2017 Apr 06.
Article em En | MEDLINE | ID: mdl-28318500
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome Cardiorrenal / Transtornos do Neurodesenvolvimento / Proteínas de Membrana Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome Cardiorrenal / Transtornos do Neurodesenvolvimento / Proteínas de Membrana Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article