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Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.

Clinical endocrinology - 1 May 2007

Tenenbaum-Rakover Yardena, Mamanasiri Sunee, Ris-Stalpers Carrie, German Alina, Sack Joseph, Allon-Shalev Stavit, Pohlenz Joachim, Refetoff Samuel

Abstract excerpt

OBJECTIVES: Iodide organification defect (IOD) is characterized by a reduced ability of the thyroid gland to retain iodide and results in hypothyroidism. Mutations in the thyroid peroxidase (TPO) gene are a frequent cause of IOD. While TPO mutations have been identified in various populations, none have been reported in Israeli patients with IOD. The objectives of this study were to characterize the molecular...

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Identifiers

PMID: 17381485
DOI: 10.1111/j.1365-2265.2007.02804.x

Genes

TPO

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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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