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ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Glass, Graeme E; O'Hara, Justine; Canham, Natalie; Cilliers, Deirdre; Dunaway, David; Fenwick, Aimee L; Jeelani, Noor-Owase; Johnson, David; Lester, Tracy; Lord, Helen; Morton, Jenny E V; Nishikawa, Hiroshi; Noons, Peter; Schwiebert, Kemmy; Shipster, Caroleen; Taylor-Beadling, Alison; Twigg, Stephen R F; Vasudevan, Pradeep; Wall, Steven A; Wilkie, Andrew O M; Wilson, Louise C.
Afiliación
  • Glass GE; Department of Surgery, Sidra Medicine, Doha, Qatar.
  • O'Hara J; Division of Clinical Surgery, Weill Cornell Medical College, Doha, Qatar.
  • Canham N; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.
  • Cilliers D; North West Thames Regional Genetics Service, Kennedy Galton Centre, Northwick Park and St. Mark's Hospitals, Harrow, United Kingdom.
  • Dunaway D; Clinical Genetics Service, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopedic Centre, Oxford, United Kingdom.
  • Fenwick AL; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.
  • Jeelani NO; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.
  • Johnson D; Department of Surgery, Sidra Medicine, Doha, Qatar.
  • Lester T; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.
  • Lord H; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom.
  • Morton JEV; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom.
  • Nishikawa H; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom.
  • Noons P; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.
  • Schwiebert K; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom.
  • Shipster C; Department of Craniofacial Surgery, Birmingham Children's Hospital, Birmingham, United Kingdom.
  • Taylor-Beadling A; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.
  • Twigg SRF; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom.
  • Vasudevan P; Department of Clinical & Academic Ophthalmology, Great Ormond Street Hospital, London, United Kingdom.
  • Wall SA; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.
  • Wilkie AOM; Molecular Genetics Laboratory, North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, United Kingdom.
  • Wilson LC; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.
Am J Med Genet A ; 179(4): 615-627, 2019 04.
Article en En | MEDLINE | ID: mdl-30758909
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Craneosinostosis / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Craneosinostosis / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2019 Tipo del documento: Article