Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

Abstract excerpt

Identifying genetic contributors to idiopathic central precocious puberty (CPP) beyond established monogenic causes remains a research priority, as most cases lack a resolved genetic basis. We performed comprehensive Sanger sequencing of all 34 coding exons of NOTCH2 in 100 Korean girls with idiopathic CPP and 100 age-matched healthy female controls. Among 55 identified sequence variants, including 11 missense...

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• Case-Control Studies
• East Asian People
• Gene Frequency
• Genetic Association Studies
• Mutation, Missense