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Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Wehrle, Anika; Witkos, Tomasz M; Unger, Sheila; Schneider, Judith; Follit, John A; Hermann, Johannes; Welting, Tim; Fano, Virginia; Hietala, Marja; Vatanavicharn, Nithiwat; Schoner, Katharina; Spranger, Jürgen; Schmidts, Miriam; Zabel, Bernhard; Pazour, Gregory J; Bloch-Zupan, Agnes; Nishimura, Gen; Superti-Furga, Andrea; Lowe, Martin; Lausch, Ekkehart.
Afiliação
  • Wehrle A; Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Witkos TM; Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
  • Unger S; Division of Genetic Medicine, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
  • Schneider J; Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Follit JA; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
  • Hermann J; Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Welting T; Laboratory for Experimental Orthopedics, Department of Orthopaedic Surgery, Maastricht University Medical Centre, Maastricht, the Netherlands.
  • Fano V; Hospital de Pediatria JP Garrahan, Buenos Aires, Argentina.
  • Hietala M; Medical Biochemistry and Genetics, University of Turku, Turku, Finland.
  • Vatanavicharn N; Department of Paediatrics, Mahidol University, Bangkok, Thailand.
  • Schoner K; Institute of Pathology, Philipps-University Marburg, Marburg, Germany.
  • Spranger J; Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Schmidts M; Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Zabel B; Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Pazour GJ; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
  • Bloch-Zupan A; Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
  • Nishimura G; Université de Strasbourg, Faculté de Chirurgie Dentaire, Institute of Advanced Studies, USIAS, Strasbourg, France.
  • Superti-Furga A; HUS, Pôle de Médecine et Chirurgie Bucco-dentaires Hôpital Civil, Centre de référence des maladies rares orales et dentaires, O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, France.
  • Lowe M; Université de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CERBM, INSERM U1258, CNRS- UMR7104, Illkirch, France.
  • Lausch E; Department of Radiology and Medical Imaging, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Japan.
JCI Insight ; 4(3)2019 Feb 07.
Article em En | MEDLINE | ID: mdl-30728324
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JCI Insight Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha 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 Idioma: En Revista: JCI Insight Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos