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Article

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.

The Journal of clinical endocrinology and metabolism - 1 Sept 2004

Meeus Laurent, Gilbert Brigitte, Rydlewski Catherine, Parma Jasmine, Roussie Anne Lienhardt, Abramowicz Marc, Vilain Catheline, Christophe Daniel, Costagliola Sabine, Vassart Gilbert

Abstract excerpt

Thyroid dysgenesis is the most common cause of congenital hypothyroidism, a relatively frequent disease affecting 1 in 3000-4000 newborns. Whereas most cases are sporadic, mutations in transcription factors implicated in thyroid development have been shown to cause a minority of cases transmitted as monogenic Mendelian diseases. PAX8 is one of these transcription factors, and so far, five mutations have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15356023
DOI: 10.1210/jc.2004-0166

Genes

PAX8

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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Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.PMID 15356023Read ↗

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