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PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.

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Title: PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Authors: Bownass L; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Abbs S; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Armstrong R; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Baujat G; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France., Behzadi G; Department of Radiology, Stavanger University Hospital, Stavanger, Norway., Berentsen RD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Burren C; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Calder A; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Cormier-Daire V; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France., Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Foulds N; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK., Juliusson PB; Department of Health Registries, Norwegian Institute of Public Health, Bergen, Norway.; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Paediatrics, Haukeland University Hospital, Bergen, Norway., Kant SG; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Mehta SG; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, Norway., Michot C; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France., Monsell F; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Offiah AC; University of Sheffield, Academic Unit of Child Health, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Richards A; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Rosendahl K; Section of Paediatric Radiology, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Medicine, University of Bergen, Bergen, Norway., Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Wellesley D; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK., Wordsworth P; Nuffield Orthopaedic Centre, Oxford, UK., Smithson S; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Corporate Authors: Deciphering Developmental Disorders Study; Wellcome Sanger Institute, Cambridge, UK.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Sep; Vol. 179 (9), pp. 1884-1894. Date of Electronic Publication: 2019 Jul 16.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
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  Data: <searchLink fieldCode="AU" term="%22Bownass+L%22">Bownass L</searchLink>; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Abbs+S%22">Abbs S</searchLink>; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Armstrong+R%22">Armstrong R</searchLink>; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Baujat+G%22">Baujat G</searchLink>; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Behzadi+G%22">Behzadi G</searchLink>; Department of Radiology, Stavanger University Hospital, Stavanger, Norway.<br /><searchLink fieldCode="AU" term="%22Berentsen+RD%22">Berentsen RD</searchLink>; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.<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 NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Calder+A%22">Calder A</searchLink>; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Newbury-Ecob+R%22">Newbury-Ecob R</searchLink>; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Foulds+N%22">Foulds N</searchLink>; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Juliusson+PB%22">Juliusson PB</searchLink>; Department of Health Registries, Norwegian Institute of Public Health, Bergen, Norway.; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Paediatrics, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Kant+SG%22">Kant SG</searchLink>; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lefroy+H%22">Lefroy H</searchLink>; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Mehta+SG%22">Mehta SG</searchLink>; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Merckoll+E%22">Merckoll E</searchLink>; Department of Radiology, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Michot+C%22">Michot C</searchLink>; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Monsell+F%22">Monsell F</searchLink>; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Offiah+AC%22">Offiah AC</searchLink>; University of Sheffield, Academic Unit of Child Health, Sheffield Children's NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Richards+A%22">Richards A</searchLink>; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Rosendahl+K%22">Rosendahl K</searchLink>; Section of Paediatric Radiology, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Medicine, University of Bergen, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Rustad+CF%22">Rustad CF</searchLink>; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Shears+D%22">Shears D</searchLink>; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Tveten+K%22">Tveten K</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Wellesley+D%22">Wellesley D</searchLink>; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Wordsworth+P%22">Wordsworth P</searchLink>; Nuffield Orthopaedic Centre, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Smithson+S%22">Smithson S</searchLink>; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
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