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Article

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.

Thyroid : official journal of the American Thyroid Association - 1 Sept 2013

Carvalho Ana, Hermanns Pia, Rodrigues Ana-Luísa, Sousa Isabel, Anselmo João, Bikker Hennie, Cabral Rita, Pereira-Duarte Carlos, Mota-Vieira Luísa, Pohlenz Joachim

Abstract excerpt

BACKGROUND: Although thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH), its molecular basis remains largely elusive. Indeed, in only a minority of cases with thyroid dysgenesis (2%-3%) was it possible to identify an underlying genetic defect. The objective of this stud...

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Source

Identifiers

PMID: 23647375
DOI: 10.1089/thy.2012.0649

Genes

PAX8
PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23647375-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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