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Paper Details

Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
J Clin Endocrinol Metab
4
2023
CDGP, Constitutional Delay of Growth and Puberty, MC3R, MC3R variants, Patients, constitutional delay of growth and puberty, deleterious variants, humans, loss-of-function variants, melanocortin 3 receptor, mice, nIHH, nonsynonymous, normosmic idiopathic hypogonadotropic hypogonadism, patients, women
Author NameAffiliation
Hilary C MartinWellcome Sanger Institute
Hilary C MartinWellcome Sanger Institute
Matthew E HurlesWellcome Sanger Institute
Matthew E HurlesWellcome Sanger Institute
Janet E HallClinical Research Branch, National Institute of Environmental Science, National Institute of Health
Joel N HirschhornBoston Children's Hospital
Joel N HirschhornBoston Children's Hospital
John R B PerryWellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital
Nicholas J TimpsonUniversity of Bristol
Ken K OngInstitute of Metabolic Science, University of Cambridge
Stephen O'RahillyWellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital
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