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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Bennett, James T; Tan, Tiong Yang; Alcantara, Diana; Tétrault, Martine; Timms, Andrew E; Jensen, Dana; Collins, Sarah; Nowaczyk, Malgorzata J M; Lindhurst, Marjorie J; Christensen, Katherine M; Braddock, Stephen R; Brandling-Bennett, Heather; Hennekam, Raoul C M; Chung, Brian; Lehman, Anna; Su, John; Ng, SuYuen; Amor, David J; Majewski, Jacek; Biesecker, Les G; Boycott, Kym M; Dobyns, William B; O'Driscoll, Mark; Moog, Ute; McDonell, Laura M.
Afiliación
  • Bennett JT; Department of Pediatrics (Genetics), University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Alcantara D; Genome Damage and Stability Centre, University of Sussex, Brighton BN19RQ, UK.
  • Tétrault M; Department of Human Genetics, McGill University, Montreal, QC H3A0G4 Canada.
  • Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Jensen D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4J9, Canada.
  • Lindhurst MJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Christensen KM; Department of Pediatrics, Cardinal Glennon Children's Medical Center, St. Louis, MO 63104, USA.
  • Braddock SR; Department of Pediatrics, Cardinal Glennon Children's Medical Center, St. Louis, MO 63104, USA.
  • Brandling-Bennett H; Departments of Pediatrics and Medicine (Dermatology), University of Washington, Seattle, WA 98195, USA.
  • Hennekam RCM; Department of Pediatrics, Academic Medical Centre, University of Amsterdam, 1105AZ Amsterdam, Netherlands.
  • Chung B; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, 21 Sassoon Road, Hong Kong, China.
  • Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H3N1, Canada.
  • Su J; Monash University, Eastern Health, Department of Dermatology, Box Hill, VIC 3128, Australia.
  • Ng S; Monash University, Eastern Health, Department of Dermatology, Box Hill, VIC 3128, Australia.
  • Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Majewski J; Department of Human Genetics, McGill University, Montreal, QC H3A0G4 Canada.
  • Biesecker LG; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H5B2, Canada.
  • Dobyns WB; Department of Pediatrics (Genetics), University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Neurology, University of Washington, Seattle, WA 98195, USA.
  • O'Driscoll M; Genome Damage and Stability Centre, University of Sussex, Brighton BN19RQ, UK. Electronic address: m.o-driscoll@sussex.ac.uk.
  • Moog U; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany. Electronic address: ute.moog@med.uni-heidelberg.de.
  • McDonell LM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H5B2, Canada.
Am J Hum Genet ; 98(3): 579-587, 2016 Mar 03.
Article en En | MEDLINE | ID: mdl-26942290
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndromes Neurocutáneos / Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos / Oftalmopatías / Lipomatosis Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndromes Neurocutáneos / Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos / Oftalmopatías / Lipomatosis Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article