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Article

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.

Pediatric research - 1 Dec 2015

Känsäkoski Johanna, Raivio Taneli, Juul Anders, Tommiska Johanna

Abstract excerpt

BACKGROUND: Idiopathic central precocious puberty (ICPP) results from the premature reactivation of the hypothalamic-pituitary-gonadal axis leading to development of secondary sexual characteristics prior to 8 y in girls or 9 y in boys. Since the initial discovery of mutations in the maternally imprinted MKRN3 gene in 2013, several case reports have described mutations in this gene in ICPP patients from different...

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Identifiers

PMID: 26331766
DOI: 10.1038/pr.2015.159

Genes

MKRN3

Variants

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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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A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.PMID 26331766Read ↗

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Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 MutationsSemantic proximity Read ↗

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