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Article

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

The New England journal of medicine - 11 Jul 2002

Moreno José C, Bikker Hennie, Kempers Marlies J E, van Trotsenburg A S Paul, Baas Frank, de Vijlder Jan J M, Vulsma Thomas, Ris-Stalpers C

Abstract excerpt

BACKGROUND: Several genetic defects are associated with permanent congenital hypothyroidism. Immunologic, environmental, and iatrogenic (but not genetic) factors are known to induce transient congenital hypothyroidism, which spontaneously resolves within the first months of life. We hypothesized that molecular defects in the thyroid oxidase system, which is composed of at least two proteins, might be involved in...

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Identifiers

PMID: 12110737
DOI: 10.1056/NEJMoa012752

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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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Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.PMID 12110737Read ↗

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