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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski, Philip J; Zachariou, Anna; Loveday, Chey; Beleza-Meireles, Ana; Bertoli, Marta; Dean, John; Douglas, Andrew G L; Ellis, Ian; Foster, Alison; Graham, John M; Hague, Jennifer; Hilhorst-Hofstee, Yvonne; Hoffer, Mariette; Johnson, Diana; Josifova, Dragana; Kant, Sarina G; Kini, Usha; Lachlan, Katherine; Lam, Wayne; Lees, Melissa; Lynch, Sally; Maitz, Silvia; McKee, Shane; Metcalfe, Kay; Nathanson, Katherine; Ockeloen, Charlotte W; Parker, Michael J; Pierson, Tyler M; Rahikkala, Elisa; Sanchez-Lara, Pedro A; Spano, Alice; Van Maldergem, Lionel; Cole, Trevor; Douzgou, Sofia; Tatton-Brown, Katrina.
Afiliação
  • Ostrowski PJ; South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, UK.
  • Zachariou A; Division of Clinical Studies, Institute of Cancer Research, London, UK.
  • Loveday C; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
  • Beleza-Meireles A; Clinical Genetics Department, Guy's and St. Thomas NHS Trust, London, UK.
  • Bertoli M; Northern Genetics Service, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Dean J; North of Scotland Medical Genetic Service, Aberdeen Royal Infirmary, Aberdeen, UK.
  • Douglas AGL; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Ellis I; Human Development and Health, Duthie Building, University of Southampton, Southampton, UK.
  • Foster A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
  • Graham JM; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
  • Hague J; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Hilhorst-Hofstee Y; David Geffen School of Medicine at the University of California, Los Angeles (UCLA), Los Angeles, California.
  • Hoffer M; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
  • Johnson D; East of England Regional Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
  • Josifova D; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Kini U; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Lachlan K; Clinical Genetics Department, Guy's and St. Thomas NHS Trust, London, UK.
  • Lam W; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Lees M; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Lynch S; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Maitz S; Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.
  • McKee S; Clinical Genetics Unit, Great Ormond Street Hospital, London, UK.
  • Metcalfe K; Temple Street Children's Hospital, Dublin, Ireland.
  • Nathanson K; Pediatric Genetics Unit, MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
  • Ockeloen CW; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, UK.
  • Parker MJ; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Pierson TM; Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Rahikkala E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Sanchez-Lara PA; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Spano A; Department of Pediatrics and Neurology, and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.
  • Van Maldergem L; Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Cole T; David Geffen School of Medicine at the University of California, Los Angeles (UCLA), Los Angeles, California.
  • Douzgou S; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
  • Tatton-Brown K; Pediatric Genetics Unit, MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
Am J Med Genet C Semin Med Genet ; 181(4): 557-564, 2019 12.
Article em En | MEDLINE | ID: mdl-31721432
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Caderinas / Transtornos do Crescimento Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Caderinas / Transtornos do Crescimento Idioma: En Ano de publicação: 2019 Tipo de documento: Article