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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
Balasubramanian, M; Hurst, J; Brown, S; Bishop, N J; Arundel, P; DeVile, C; Pollitt, R C; Crooks, L; Longman, D; Caceres, J F; Shackley, F; Connolly, S; Payne, J H; Offiah, A C; Hughes, D; Parker, M J; Hide, W; Skerry, T M.
Afiliação
  • Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK; Highly Specialised Service for Severe, Complex and Atypical OI, UK. Electronic address: meena.balasubramanian@nhs.net.
  • Hurst J; NE Thames Clinical Genetics Service, Great Ormond Street Hospital, UK.
  • Brown S; Sheffield RNAi Screening Facility, Department of Biomedical Sciences, University of Sheffield, UK.
  • Bishop NJ; Highly Specialised Service for Severe, Complex and Atypical OI, UK; Academic Unit of Child Health, University of Sheffield, UK.
  • Arundel P; Highly Specialised Service for Severe, Complex and Atypical OI, UK.
  • DeVile C; Highly Specialised Service for Severe, Complex and Atypical OI, UK.
  • Pollitt RC; Academic Unit of Child Health, University of Sheffield, UK; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK.
  • Crooks L; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK; Department of Biosciences and Chemistry, Sheffield Hallam University, UK.
  • Longman D; MRC Human Genetics Unit, IGMM, University of Edinburgh, UK.
  • Caceres JF; MRC Human Genetics Unit, IGMM, University of Edinburgh, UK.
  • Shackley F; Department of Paediatric Immunology, Sheffield Children's NHS Foundation Trust, UK.
  • Connolly S; Department of Paediatric Hepatology, Sheffield Children's NHS Foundation Trust, UK.
  • Payne JH; Department of Paediatric Haematology, Sheffield Children's NHS Foundation Trust, UK.
  • Offiah AC; Highly Specialised Service for Severe, Complex and Atypical OI, UK; Academic Unit of Child Health, University of Sheffield, UK.
  • Hughes D; Department of Histopathology, Sheffield Teaching Hospitals NHS Foundation Trust, UK.
  • Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK.
  • Hide W; Centre for Computational Biology, Sheffield Institute of Translational Neuroscience, University of Sheffield, UK.
  • Skerry TM; Mellanby Bone Research Centre, Department of Oncology & Metabolism, University of Sheffield, UK.
Bone ; 94: 65-74, 2017 01.
Article em En | MEDLINE | ID: mdl-27789416
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Mutação / Proteínas de Neoplasias Tipo de estudo: Prognostic_studies / Screening_studies Aspecto: Patient_preference Limite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Bone Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Mutação / Proteínas de Neoplasias Tipo de estudo: Prognostic_studies / Screening_studies Aspecto: Patient_preference Limite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Bone Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2017 Tipo de documento: Article