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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano, Dov; Baris, Hagit N; Chen, Anlu; Hitzert, Marrit M; Schueler, Markus; Gulluni, Federico; Wiesener, Antje; Bergua, Antonio; Mory, Adi; Copeland, Brett; Gleeson, Joseph G; Rump, Patrick; van Meer, Hester; Sival, Deborah A; Haucke, Volker; Kriwinsky, Josh; Knaup, Karl X; Reis, André; Hauer, Nadine N; Hirsch, Emilio; Roepman, Ronald; Pfundt, Rolph; Thiel, Christian T; Wiesener, Michael S; Aslanyan, Mariam G; Buchner, David A.
Afiliación
  • Tiosano D; Division of Pediatric Endocrinology, Ruth Children's Hospital, Rambam Medical Center, Haifa, Israel.
  • Baris HN; Rappaport Family Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Chen A; Rappaport Family Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Hitzert MM; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Schueler M; Department of Biochemistry, Case Western Reserve University, Cleveland, Ohio, United States of America.
  • Gulluni F; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Wiesener A; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
  • Bergua A; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Torino, Italy.
  • Mory A; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
  • Copeland B; Department of Ophthalmology, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
  • Gleeson JG; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Rump P; Laboratory of Pediatric Brain Diseases, Rockefeller University, New York, New York, United States of America.
  • van Meer H; Laboratory of Pediatric Brain Diseases, Rockefeller University, New York, New York, United States of America.
  • Sival DA; Department of Neurosciences, University of California, San Diego, La Jolla, California, United States of America.
  • Haucke V; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Kriwinsky J; Department of Pediatrics, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Knaup KX; Department of Pediatrics, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Reis A; Leibniz-Institut für Molekulare Pharmakologie, Berlin Faculty of Biology, Chemistry, and Pharmacy, Freie Universität Berlin, Berlin, Germany.
  • Hauer NN; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, United States of America.
  • Hirsch E; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
  • Roepman R; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
  • Pfundt R; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
  • Thiel CT; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Torino, Italy.
  • Wiesener MS; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Aslanyan MG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Buchner DA; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
PLoS Genet ; 15(4): e1008088, 2019 04.
Article en En | MEDLINE | ID: mdl-31034465
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Desarrollo Óseo / Catarata / Trastornos de la Motilidad Ciliar / Fosfatidilinositol 3-Quinasas / Enanismo / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2019 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Desarrollo Óseo / Catarata / Trastornos de la Motilidad Ciliar / Fosfatidilinositol 3-Quinasas / Enanismo / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2019 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos