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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.

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Title: Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Authors: Duckett K; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Williamson A; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Kincaid JWR; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Rainbow K; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Corbin LJ; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK., Martin HC; Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Eberhardt RY; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Huang QQ; Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., He W; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA., Brauner R; Pediatric Endocrinology Unit, Hôpital Fondation Adolphe de Rothschild and Université Paris Cité, 25 rue Manin, 75019 Paris, France., Delaney A; Division of Endocrinology, Department of Pediatric Medicine, St. Jude Children's Research Hospital, 262 Danny Thomas Place MS 737, Memphis, TN 38105, USA., Dunkel L; Centre for Endocrinology, William Harvey Research Institute, Barts & the London Medical School, Charterhouse Square, London EC1M 6BQ, UK., Grinspon RP; Centro de Investigaciones Endocrinolègicas 'Dr. César Bergadá' (CEDIE), CONICET-FEI-Divisièn de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires, Argentina., Hall JE; Clinical Research Branch, Division of Intramural Research, National Institute of Environmental Science, National Institute of Health, 111 TW Alexander Dr, Bldg 101 - A222, Research Triangle Park, NC 27709, USA., Hirschhorn JN; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA., Howard SR; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Latronico AC; Departamento de Clínica Médica, Av. Dr. Arnaldo, 455 - Cerqueira César, 01246903 São Paulo - SP, Brazil., Jorge AAL; Departamento de Clínica Médica, Av. Dr. Arnaldo, 455 - Cerqueira César, 01246903 São Paulo - SP, Brazil., McElreavey K; Institut Pasteur, Université de Paris, CNRS UMR3738, Human Developmental Genetics, F-75015 Paris, France., Mericq V; Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santa Rosa 1234, 2° piso, Santiago 8320000, Chile., Merino PM; Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santa Rosa 1234, 2° piso, Santiago 8320000, Chile., Palmert MR; Division of Endocrinology, The Hospital for Sick Children and Departments of Pediatrics and Physiology, University of Toronto, Toronto, ON M5G 1X8, Canada., Plummer L; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Bartlett Hall Extension, 5th Floor, 55 Fruit Street, Boston, MA 02114, USA., Rey RA; Centro de Investigaciones Endocrinolègicas 'Dr. César Bergadá' (CEDIE), CONICET-FEI-Divisièn de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires, Argentina., Rezende RC; Departamento de Clínica Médica, Av. Dr. Arnaldo, 455 - Cerqueira César, 01246903 São Paulo - SP, Brazil., Seminara SB; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Bartlett Hall Extension, 5th Floor, 55 Fruit Street, Boston, MA 02114, USA., Salnikov K; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Bartlett Hall Extension, 5th Floor, 55 Fruit Street, Boston, MA 02114, USA., Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester M13 9WL, UK., Lam BYH; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Perry JRB; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Timpson NJ; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK., Clayton P; Paediatric Endocrinology, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK., Chan YM; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA., Ong KK; MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge Biomedical Campus Box 285, University of Cambridge, Cambridge CB2 0QQ, UK., O'Rahilly S; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2023 Nov 17; Vol. 108 (12), pp. e1580-e1587.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
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