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Article

A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.

Thyroid : official journal of the American Thyroid Association - 1 Oct 2001

Bretones P, Duprez L, Parma J, David M, Vassart G, Rodien P

Abstract excerpt

Most of the time congenital hypothyroidism appears as a sporadic disease. In addition to the rare defects in hormonosynthesis associated with goiters, the causes of congenital hypothyroidism include agenesis and ectopy of the thyroid gland. The study of some familial cases has allowed the identification of a few genes responsible for congenital hypothyroidism. We report here a familial case of congenital...

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PMID: 11716047
DOI: 10.1089/105072501753211064

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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