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Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.

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Title: Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.
Authors: 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.; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Baker D; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Brock J; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Arundel P; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Burren C; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Smithson S; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., DeVile C; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Crowe B; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Allgrove J; Department of Endocrinology, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK., Saraff V; Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Shaw N; Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Balasubramanian M; Department of Oncology and Metabolism, The University of Sheffield, Sheffield, UK m.balasubramanian@sheffield.ac.uk.; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Source: Archives of disease in childhood [Arch Dis Child] 2022 May; Vol. 107 (5), pp. 486-490. Date of Electronic Publication: 2021 Nov 08.
Publication Type: Journal Article; Observational Study
Journal Info: Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.
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  Data: <searchLink fieldCode="AU" term="%22Thornley+P%22">Thornley P</searchLink>; The University of Sheffield Faculty of Medicine Dentistry and Health, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Bishop+N%22">Bishop N</searchLink>; Department of Oncology and Metabolism, The University of Sheffield, Sheffield, UK.; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Baker+D%22">Baker D</searchLink>; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Brock+J%22">Brock J</searchLink>; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Arundel+P%22">Arundel P</searchLink>; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Burren+C%22">Burren C</searchLink>; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Smithson+S%22">Smithson S</searchLink>; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22DeVile+C%22">DeVile C</searchLink>; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Crowe+B%22">Crowe B</searchLink>; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Allgrove+J%22">Allgrove J</searchLink>; Department of Endocrinology, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Saraff+V%22">Saraff V</searchLink>; Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Shaw+N%22">Shaw N</searchLink>; Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Balasubramanian+M%22">Balasubramanian M</searchLink>; Department of Oncology and Metabolism, The University of Sheffield, Sheffield, UK m.balasubramanian@sheffield.ac.uk.; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
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  Data: <searchLink fieldCode="JN" term="%220372434%22">Archives of disease in childhood</searchLink> [Arch Dis Child] 2022 May; Vol. 107 (5), pp. 486-490. <i>Date of Electronic Publication: </i>2021 Nov 08.
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        Value: 10.1136/archdischild-2021-322911
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