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Article

Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations

31 Dec 2020

Abstract excerpt

CONTEXT: Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP). OBJECTIVE: To describe the clinical and hormonal features of a large cohort of patients with CPP due to MKRN3 mutations and compare the characteristics of different types of genetic defects. METHODS: Multiethnic cohort of 716 patients with familial or...

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PMID: 33383582
DOI: 10.1210/clinem/dgaa955

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