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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.

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Title: Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Authors: Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Lin SJ; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Jones EA; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Orr D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Moss C; Department of Dermatology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Haider Z; Department of Dermatology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Ryan G; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Holden S; Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Harrison M; Department of Pediatric Dentistry, Guy's and St Thomas' Dental Institute, London, UK., Burrows N; Department of Dermatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street NHS Foundation Trust, London, UK., Loveless M; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Petree C; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Low K; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK., Donnelly D; Department of Genetic Medicine, Belfast HSC Trust, Lisburn Road, Belfast, UK., Lovell S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Drosou K; Department of Earth and Environmental Sciences, Manchester Institute of Biotechnology, University of Manchester, Manchester, UK.; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 99 Oxford Road, Manchester, UK., Varshney GK; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Corporate Authors: Genomics England Research Consortium, Solve-RD consortium
Source: HGG advances [HGG Adv] 2023 Mar 03; Vol. 4 (2), pp. 100186. Date of Electronic Publication: 2023 Mar 03 (Print Publication: 2023).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv
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