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Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown, Katrina; Loveday, Chey; Yost, Shawn; Clarke, Matthew; Ramsay, Emma; Zachariou, Anna; Elliott, Anna; Wylie, Harriet; Ardissone, Anna; Rittinger, Olaf; Stewart, Fiona; Temple, I Karen; Cole, Trevor; Mahamdallie, Shazia; Seal, Sheila; Ruark, Elise; Rahman, Nazneen.
Afiliación
  • Tatton-Brown K; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.
  • Loveday C; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Yost S; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Clarke M; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Ramsay E; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Zachariou A; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Elliott A; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Wylie H; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Ardissone A; Child Neurology Unit, Foundation IRCCS C Besta Neurological Institute, Milan 20133, Italy.
  • Rittinger O; Landeskrankenanstalten Salzburg, Kinderklinik Department of Pediatrics, Klinische Genetik, Salzburg 5020, Austria.
  • Stewart F; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, Northern Ireland.
  • Temple IK; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK; Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust, Southampton SO16 6YD, UK.
  • Cole T; West Midlands Regional Genetics Service, Birmingham Women's Hospital NHS Foundation Trust and University of Birmingham, Birmingham Health Partners, Birmingham B15 2TG, UK.
  • Mahamdallie S; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Seal S; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Ruark E; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK.
  • Rahman N; Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK. Electronic address: rahmanlab@icr.ac.uk.
Am J Hum Genet ; 100(5): 725-736, 2017 May 04.
Article en En | MEDLINE | ID: mdl-28475857
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Epigénesis Genética / Discapacidad Intelectual / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Epigénesis Genética / Discapacidad Intelectual / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article