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Article

Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

The Journal of clinical endocrinology and metabolism - 1 Jan 2001

Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G

Abstract excerpt

Congenital hypothyroidism (CH) is a relatively frequent and potentially severe disease. It is classically subdivided into: 1) thyroid dysgenesis (TD), a defect in the organogenesis of the gland leading to hypoplastic, ectopic, or absent thyroid gland; or 2) thyroid dyshormonogenesis, a defect in one of the biochemical mechanisms responsible for thyroid hormone synthesis. Most cases of TD are sporadic, although...

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Source

Identifiers

PMID: 11232006
DOI: 10.1210/jcem.86.1.7140

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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Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.PMID 11232006Read ↗

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