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Delineating the expanding phenotype associated with SCAPER gene mutation
Authors:James Fasham  Gavin Arno  Siying Lin  Mingchu Xu  Keren J. Carss  Sarah Hull  Amelia Lane  Anthony G. Robson  Olivia Wenger  Jay E. Self  Gaurav V. Harlalka  Claire G. Salter  Lynn Schema  Timothy J. Moss  Michael E. Cheetham  Anthony T. Moore  F. Lucy Raymond  Rui Chen  Emma L. Baple  Andrew R. Webster  Andrew H. Crosby  NIHR Bioresource Rare Diseases Consortium
Affiliation:1. Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom;2. Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital (Heavitree), Exeter, United Kingdom;3. UCL Institute of Ophthalmology, University College London, London, United Kingdom;4. Moorfields Eye Hospital, London, United Kingdom;5. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;6. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas;7. Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, United Kingdom;8. NIHR BioResource – Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom;9. New Leaf Center, Clinic for Special Children, Mount Eaton, Ohio;10. Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom;11. Division of Genetics and Metabolism, University of Minnesota Medical Center – Fairview, Minneapolis, Minnesota;12. Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota;13. Ophthalmology Department, UCSF School of Medicine, Koret Vision Centre, San Francisco, California;14. Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom;15.

https://orcid.org/0000-0002-6637-3411;16. Andrew Crosby and Emma Baple, Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, United Kingdom.;17. Emails: ,;18. Andrew R. Webster, UCL Institute of Ophthalmology, University College London, London EC1V 9EL, United Kingdom.;19.

https://orcid.org/0000-0001-6915-9560

Abstract:
Keywords:Brachydactyly  CCNA2–  CDK2  Intellectual disability  Retinitis pigmentosa  SCAPER
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