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Article

Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism.

Clinical endocrinology - 1 Dec 2010

Di Palma Tina, Zampella Emilia, Filippone Maria Grazia, Macchia Paolo Emidio, Ris-Stalpers Carrie, de Vroede Monique, Zannini Mariastella

Abstract excerpt

BACKGROUND: Congenital hypothyroidism (CH) is a common endocrine disease that occurs in about 1:3000 newborns. In 80-85% of the cases, CH is presumably secondary to thyroid dysgenesis (TD), a defect in the organogenesis of the gland leading to an ectopic (30-45%), absent (agenesis, 35-40%) or hyp...

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Identifiers

PMID: 20718765
DOI: 10.1111/j.1365-2265.2010.03851.x

Genes

PAX8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20718765-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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