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Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

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Title: Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.
Authors: Pagnamenta AT; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Fasham J; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Beaumont RN; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Baker D; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Keigwin S; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Hall T; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Baple EL; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Department of Clinical Genetics, Royal Devon University Hospital, Exeter, UK., Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Highly Specialised Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Jackson L; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Wright CF; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. caroline.wright@exeter.ac.uk.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May 12. Date of Electronic Publication: 2026 May 12.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.
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  Data: <searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Fasham+J%22">Fasham J</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Beaumont+RN%22">Beaumont RN</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Baker+D%22">Baker D</searchLink>; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Keigwin+S%22">Keigwin S</searchLink>; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Hall+T%22">Hall T</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Baple+EL%22">Baple EL</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Department of Clinical Genetics, Royal Devon University Hospital, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Balasubramanian+M%22">Balasubramanian M</searchLink>; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Highly Specialised Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Jackson+L%22">Jackson L</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Wright+CF%22">Wright CF</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. caroline.wright@exeter.ac.uk.
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        Value: 10.1038/s41431-026-02118-6
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              Text: 2026 May 12
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