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Article

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

European journal of pediatrics - 1 Nov 2015

Bougacha-Elleuch Noura, Charfi Nadia, Miled Nabil, Bouhajja Houda, Belguith Neila, Mnif Mouna, Jaurge Paula, Chikhrouhou Nessrine, Ayadi Hammadi, Hachicha Mongia, Abid Mohamed

Abstract excerpt

UNLABELLED: We aimed to identify causal mutation(s) in 13 patients with thyroid dyshormonogenesis (TD) from three consanguineous Tunisian families. A 12-year clinical follow-up showed phenotypic variability ranging from the presence to the absence of goiter, sensorineural deafness, and mental retardation. Genetic analysis using microsatellite markers within two candidate genes (TPO and PDS) gave evidence of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25968604
DOI: 10.1007/s00431-015-2550-4

Genes

TPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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