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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas.
Afiliação
  • Di Donato N; Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Neuhann T; Medical Genetics Center, Munich, Germany.
  • Kahlert AK; Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany.
  • Klink B; Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
  • Hackmann K; Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
  • Neuhann I; MVZ Prof. Neuhann, Munich, Germany.
  • Novotna B; Department of Sozialpaediatrisches Zentrum, Klinik fuer Kinder und Jugendmedizin, Universitaetsklinikum Dresden, Dresden, Germany.
  • Schallner J; Department of Sozialpaediatrisches Zentrum, Klinik fuer Kinder und Jugendmedizin, Universitaetsklinikum Dresden, Dresden, Germany.
  • Krause C; Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
  • Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA Division of Genetic Medicine, Department of Medicine, Univers
  • Parnell SE; Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.
  • Benet-Pages A; Medical Genetics Center, Munich, Germany.
  • Nissen AM; Medical Genetics Center, Munich, Germany.
  • Berger W; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
  • Altmüller J; Cologne Center for Genomics, Cologne, Germany.
  • Thiele H; Cologne Center for Genomics, Cologne, Germany.
  • Weber BH; Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
  • Schrock E; Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
  • Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA Departments of Pediatrics and Neurology, University of Washin
  • Bier A; Gemeinschaftspraxis für Humangenetik, Dresden, Germany.
  • Rump A; Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
J Med Genet ; 53(6): 419-25, 2016 06.
Article em En | MEDLINE | ID: mdl-26843489
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas de Ligação a RNA / Senilidade Prematura / Mutação de Sentido Incorreto / Nanismo / Complexo Multienzimático de Ribonucleases do Exossomo / Perda Auditiva / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas de Ligação a RNA / Senilidade Prematura / Mutação de Sentido Incorreto / Nanismo / Complexo Multienzimático de Ribonucleases do Exossomo / Perda Auditiva / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos