Your browser doesn't support javascript.
loading
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Tan, Tiong Yang; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J; Strauss, Kevin A; Brigatti, Karlla; Puffenberger, Erik; Li, Dong; Xie, LiQin; Das, Nanditha; Skubas, Ioanna; Deckelbaum, Ron A; Hughes, Virginia; Brydges, Susannah; Hatsell, Sarah; Siao, Chia-Jen; Dominguez, Melissa G; Economides, Aris; Overton, John D; Mayne, Valerie; Simm, Peter J; Jones, Bryn O; Eggers, Stefanie; Le Guyader, Gwenaël; Pelluard, Fanny; Haack, Tobias B; Sturm, Marc; Riess, Angelika; Waldmueller, Stephan; Hofbeck, Michael; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Hakonarson, Hakon; Baker, Naomi L; Farlie, Peter G.
Afiliación
  • Tan TY; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address: tiong.tan@vcgs.org.au.
  • Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Bhoj EJ; Center for Applied Genomics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.
  • Strauss KA; Clinic for Special Children, Philadelphia, PA 17579, USA.
  • Brigatti K; Clinic for Special Children, Philadelphia, PA 17579, USA.
  • Puffenberger E; Clinic for Special Children, Philadelphia, PA 17579, USA.
  • Li D; Center for Applied Genomics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.
  • Xie L; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Das N; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Skubas I; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Deckelbaum RA; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Hughes V; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Brydges S; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Hatsell S; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Siao CJ; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Dominguez MG; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Economides A; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Mayne V; Royal Children's Hospital, Parkville, Melbourne, VIC 3052, Australia.
  • Simm PJ; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Royal Children's Hospital, Parkville, Melbourne, VIC 3052, Australia.
  • Jones BO; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Royal Children's Hospital, Parkville, Melbourne, VIC 3052, Australia.
  • Eggers S; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Le Guyader G; Department of Medical Genetics, Poitiers University Hospital, Poitiers 86021, France.
  • Pelluard F; Department of Pathology, Bordeaux University Hospital, Bordeaux 33076, France.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
  • Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
  • Riess A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
  • Waldmueller S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany; Universitätsklinik für Kinder- und Jugendmedizin, Kinderheilkunde II Kardiologie Intensivmedizin Pulmologie, 72076 Tuebingen, Germany.
  • Hofbeck M; Universitätsklinik für Kinder- und Jugendmedizin, Kinderheilkunde II Kardiologie Intensivmedizin Pulmologie, 72076 Tuebingen, Germany.
  • Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
  • Joset P; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
  • Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
  • Hakonarson H; Center for Applied Genomics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.
  • Baker NL; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Farlie PG; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Am J Hum Genet ; 101(6): 985-994, 2017 Dec 07.
Article en En | MEDLINE | ID: mdl-29198724
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Anomalías Craneofaciales / Enanismo / Proteína Morfogenética Ósea 2 / Haploinsuficiencia / Cardiopatías Congénitas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Anomalías Craneofaciales / Enanismo / Proteína Morfogenética Ósea 2 / Haploinsuficiencia / Cardiopatías Congénitas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article