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Article

Familial central precocious puberty: two novel MKRN3 mutations.

Pediatric research - 1 Aug 2021

Varimo Tero, Iivonen Anna-Pauliina, Känsäkoski Johanna, Wehkalampi Karoliina, Hero Matti, Vaaralahti Kirsi, Miettinen Päivi J, Niedziela Marek, Raivio Taneli

Abstract excerpt

BACKGROUND: Paternally inherited loss-of-function mutations in MKRN3 underlie central precocious puberty (CPP). We describe clinical and genetic features of CPP patients with paternally inherited MKRN3 mutations in two independent families. METHODS: The single coding exon of MKRN3 was analyzed in three patients with CPP and their family members, followed by segregation analyses. Additionally, we report the...

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PMID: 33214675
DOI: 10.1038/s41390-020-01270-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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