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Article

Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe.

Hormone research - 1 Jan 2004

Karges Beate, LeHeup Bruno, Schoenle Eugen, Castro-Correia Cintia, Fontoura Manuel, Pfäffle Roland, Andler Werner, Debatin Klaus-Michael, Karges Wolfram

Abstract excerpt

BACKGROUND: Thyroid hormones are crucial for normal growth and central nervous system development. In recent years, germline variants of the TSHbeta subunit gene have been identified as a cause of congenital TSH deficiency. METHODS: We performed a genetic and clinical study in children from four European countries diagnosed with congenital isolated central hypothyroidism. RESULTS: TSHbeta gene analysis revealed...

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PMID: 15297803
DOI: 10.1159/000080071

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

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