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Article

A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect.

Endocrine research - 1 Jan 2015

Cangul Hakan, Darendeliler Feyza, Saglam Yaman, Kucukemre Banu, Kendall Michaela, Boelaert Kristien, Barrett Timothy G, Maher Eamonn R

Abstract excerpt

UNLABELLED: Absract Purpose: Mutations in the TPO gene have been reported to cause congenital hypothyroidism (CH), and our aim in this study was to determine the genetic basis of congenital hypothyroidism in two affected children coming from a consanguineous family. METHODS: Since CH is usually i...

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Source

Identifiers

PMID: 25328990
DOI: 10.3109/07435800.2014.967354

Genes

TPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25328990-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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