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SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

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Title: SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Authors: Edgerley K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Bryson L; Department of Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK., Hanington L; Department of Clinical Genetics, Oxford Regional Genetics Service, Oxford, UK., Irving R; Department of All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Joss S; Department of Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK., Lampe A; Department of Clinical Genetics, South East of Scotland Clinical Genetics Service, Edinburgh, UK., Maystadt I; Department of Clinical Genetics, Institute of Pathology and Genetics, Charleroi, Belgium., Osio D; Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Richardson R; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Split M; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Sansbury FH; Department of All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Stewart H; Department of Clinical Genetics, Oxford Regional Genetics Service, Oxford, UK., McNeil A; Department of Clinical Genetics, University of Sheffield, Sheffield, UK., Low K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Department of Academic Child Health, University of Bristol, Bristol, UK.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1447-1458. Date of Electronic Publication: 2023 Mar 02.
Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
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: SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
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  Data: <searchLink fieldCode="AU" term="%22Edgerley+K%22">Edgerley K</searchLink>; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Bryson+L%22">Bryson L</searchLink>; Department of Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Hanington+L%22">Hanington L</searchLink>; Department of Clinical Genetics, Oxford Regional Genetics Service, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Irving+R%22">Irving R</searchLink>; Department of All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Joss+S%22">Joss S</searchLink>; Department of Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Lampe+A%22">Lampe A</searchLink>; Department of Clinical Genetics, South East of Scotland Clinical Genetics Service, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Maystadt+I%22">Maystadt I</searchLink>; Department of Clinical Genetics, Institute of Pathology and Genetics, Charleroi, Belgium.<br /><searchLink fieldCode="AU" term="%22Osio+D%22">Osio D</searchLink>; Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Richardson+R%22">Richardson R</searchLink>; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Split+M%22">Split M</searchLink>; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Sansbury+FH%22">Sansbury FH</searchLink>; Department of All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Scurr+I%22">Scurr I</searchLink>; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Stewart+H%22">Stewart H</searchLink>; Department of Clinical Genetics, Oxford Regional Genetics Service, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22McNeil+A%22">McNeil A</searchLink>; Department of Clinical Genetics, University of Sheffield, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Low+K%22">Low K</searchLink>; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Department of Academic Child Health, University of Bristol, Bristol, UK.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1447-1458. <i>Date of Electronic Publication: </i>2023 Mar 02.
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        Value: 10.1002/ajmg.a.63124
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        Text: English
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