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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 ret...

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Methodology Data sources Editorial policy Privacy 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 4 Sept 2026. Prepared record publication-25968604-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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