Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
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| Title: | Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.61781 |
