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Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.
Thornley, Patrick; Bishop, Nicholas; Baker, Duncan; Brock, Joanna; Arundel, Paul; Burren, Christine; Smithson, Sarah; DeVile, Catherine; Crowe, Belinda; Allgrove, Jeremy; Saraff, Vrinda; Shaw, Nick; Balasubramanian, Meena.
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  • Thornley P; The University of Sheffield Faculty of Medicine Dentistry and Health, Sheffield, UK.
  • Bishop N; Department of Oncology and Metabolism, The University of Sheffield, Sheffield, UK.
  • Baker D; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
  • Brock J; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Arundel P; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Burren C; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
  • Smithson S; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • DeVile C; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Crowe B; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Allgrove J; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Saraff V; Department of Endocrinology, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.
  • Shaw N; Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Balasubramanian M; Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Arch Dis Child ; 107(5): 486-490, 2022 05.
Article en En | MEDLINE | ID: mdl-34750202
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Arch Dis Child Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Arch Dis Child Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido