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Article

Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism.

The Journal of clinical endocrinology and metabolism - 20 Feb 2026

Islam Mohammad S, Louzada Ruy A, Bouviere Jessica, Ahmed Amna E, Bernal-Mizrachi Ernesto, Dumitrescu Alexandra M, Refetoff Samuel, Weiss Roy E

Abstract excerpt

CONTEXT: Congenital hypothyroidism (CH) is a leading cause of preventable intellectual disability worldwide if left untreated. Thyroid peroxidase (TPO) is a key enzyme that uses hydrogen peroxide from the DUOX/DUOXA system to oxidize iodide for thyroid hormone synthesis. OBJECTIVE: This work aimed to identify the pathogenic TPO variants responsible for CH. METHODS: Variants identified by whole-exome sequencing...

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

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Source

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Identifiers

PMID: 41004687
DOI: 10.1210/clinem/dgaf536
PMCID: PMC12684696

Genes

TPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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