Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty.
Katie DuckettAlice WilliamsonJohn W R KincaidKara M D HunterLaura J CorbinHilary C MartinRuth Y EberhardtQin Qin HuangMatthew E HurlesWen HeRaja BraunerAngela DelaneyLeo DunkelRomina P GrinsponJanet E HallJoel N HirschhornSasha R HowardAna C LatronicoAlexander A L JorgeKen McElreaveyVerónica MericqPaulina M MerinoMark R PalmertLacey PlummerRodolfo A ReyRaíssa C RezendeStephanie B SeminaraKathryn SalnikovIndraneel BanerjeeBrian Y H LamJohn R B PerryNicholas John TimpsonPeter Ellis ClaytonYee-Ming ChanKen K OngStephen I O'RahillyPublished in: The Journal of clinical endocrinology and metabolism (2023)
We have found evidence that functionally damaging variants in MC3R are overrepresented in individuals with CDGP but are not a common cause of this phenotype.
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