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Article

Total iodide organification defect: clinical and molecular characterization of an Italian family.

Thyroid : official journal of the American Thyroid Association - 1 Sept 2005

Fugazzola Laura, Mannavola Deborah, Vigone Maria Cristina, Cirello Valentina, Weber Giovanna, Beck-Peccoz Paolo, Persani Luca

Abstract excerpt

Thyroid peroxidase (TPO) deficiency is frequently involved in total iodide organification defects (TIOD). According to the recessive mode of inheritance, mutations are found in homozygous or in compound heterozygous states. However, a single heterozygous TPO mutation is reported in a high percentage (approximately 20%) of patients with typical TIOD phenotype. In the present study, the genetic and clinical...

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Identifiers

PMID: 16187919
DOI: 10.1089/thy.2005.15.1085

Genes

TPO

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

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Total iodide organification defect: clinical and molecular characterization of an Italian family.PMID 16187919Read ↗

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Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).Semantic proximity Read ↗

High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.Semantic proximity Read ↗

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