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Article

Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Aug 2020

Lee Hae Sang, Jeong Hwal Rim, Rho Jung Gi, Kum Chang Dae, Kim Kyung Hee, Kim Do Wan, Cheong Jae Youn, Jeong Seon-Yong, Hwang Jin Soon

Abstract excerpt

Objective: Genetic factors play a critical role in pubertal progression; however, mutations associated with central precocious puberty (CPP) have been reported only in four genes: KISS1, KISS1R, DLK1, and MKRN3. This study aimed to identify novel, potentially pathogenic variants in patients with familial CPP via whole-exome sequencing (WES).Methods: WES analysis was applied in 28 patients (25 girls and three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32400230
DOI: 10.1080/09513590.2020.1760241

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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