Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.

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Title: Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
Authors: Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Vaina C; Department of Pediatrics, Yeovil District Hospital NHS Foundation Trust, Yeovil, Somerset, UK., Giri D; Department of Pediatric Endocrinology and Diabetes, University Hospital Bristol NHS Foundation Trust, Bristol, UK., Burren CP; Department of Pediatric Endocrinology and Diabetes, University Hospital Bristol NHS Foundation Trust, Bristol, UK., James M; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Offiah AC; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK., Overton T; Department of Fetal Medicine, St Michael's Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Baptista J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Smithson SF; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2403-2408. Date of Electronic Publication: 2020 Aug 11.
Publication Type: Case Reports; 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: Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Ashraf+T%22">Ashraf T</searchLink>; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Vaina+C%22">Vaina C</searchLink>; Department of Pediatrics, Yeovil District Hospital NHS Foundation Trust, Yeovil, Somerset, UK.<br /><searchLink fieldCode="AU" term="%22Giri+D%22">Giri D</searchLink>; Department of Pediatric Endocrinology and Diabetes, University Hospital Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Burren+CP%22">Burren CP</searchLink>; Department of Pediatric Endocrinology and Diabetes, University Hospital Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22James+M%22">James M</searchLink>; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Offiah+AC%22">Offiah AC</searchLink>; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Overton+T%22">Overton T</searchLink>; Department of Fetal Medicine, St Michael's Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Baptista+J%22">Baptista J</searchLink>; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Ellard+S%22">Ellard S</searchLink>; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Smithson+SF%22">Smithson SF</searchLink>; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, 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] 2020 Oct; Vol. 182 (10), pp. 2403-2408. <i>Date of Electronic Publication: </i>2020 Aug 11.
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              Text: 2020 Oct
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