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Article

Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature.

Molecular genetics & genomic medicine - 1 Dec 2022

Yuan Gaopin, Zhang Xiaohong, Liu Shaofeng, Chen Tingli

Abstract excerpt

BACKGROUND: Central precocious puberty (CPP) is a precocious puberty due to premature activation of the hypothalamic-pituitary-gonadal axis (HPG). MKRN3 defects are well-known causes of CPP, while DLK1 mutations were recently identified in a few patients with CPP. METHODS: The study was approved by the Institutional Review and the scientific committee of the hospital. The clinical data were collected. Whole-exome...

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Identifiers

PMID: 36353763
DOI: 10.1002/mgg3.2087
PMCID: PMC9747546

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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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