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Article

Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.

Journal of endocrinological investigation - 1 Feb 2023

Gentilini D, Muzza M, de Filippis T, Vigone M C, Weber G, Calzari L, Cassio A, Di Frenna M, Bartolucci M, Grassi E S, Carbone E, Olivieri A, Persani L

Abstract excerpt

PURPOSE: The elevated frequency of discordance for congenital hypothyroidism (CH) phenotype between monozygotic twins suggests the involvement of non-mendelian mechanisms. The aim of the study was to investigate the role of epigenetics in CH pathogenesis. METHODS: A genome-wide DNA methylation analysis was performed on the peripheral blood of 23 twin pairs (10 monozygotic and 13 dizygotic), 4 concordant and 19...

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Share to Congenital Hypothyroidism
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Twins, Monozygotic

Source

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Identifiers

PMID: 36071330
DOI: 10.1007/s40618-022-01915-2
PMCID: PMC9859866

Provenance

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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