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Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations.
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 andExpand
OR17-2 Comprehensive Genetic Investigation of Patients with Central Precocious Puberty Associated with Complex Phenotypes
Abstract Background: Idiopathic central precocious puberty (CPP) is mostly described as an isolated entity. A few studies have shown its association with clinical syndromes and rare cases ofExpand