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Article

Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.

Thyroid : official journal of the American Thyroid Association - 1 Dec 2003

Nascimento Antonio C, Guedes Dulce R, Santos Cecilia S, Knobel Meyer, Rubio Ileana G S, Medeiros-Neto Geraldo

Abstract excerpt

Mutations of the thyroperoxidase (TPO) gene have been reported as being the most severe and frequent abnormality in thyroid iodide organification defect (IOD) causing goitrous congenital hypothyroidism. The objective of this study was to screen and subsequently identify TPO gene mutations in patients with congenital hypothyroidism with evidence of total iodine organification defects (TIOD) or partial iodine...

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Source

Identifiers

PMID: 14751036
DOI: 10.1089/10507250360731550

Genes

TPO

Provenance

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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