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Article

Mutations of the TSH receptor as cause of congenital hyperthyroidism.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 1996

Schwab K O, Söhlemann P, Gerlich M, Broecker M, Petrykowski W, Holzapfel H P, Paschke R, Grüters A, Derwahl M

Abstract excerpt

4 patients of two families with congenital persistent hyperthyroidism without detectable autoantibodies are reported. The members of the first family affected by hyperthyroidism, i.e. the mother and her two children, showed a germline mutation, a transition of GCC to GTC in the genomic DNA of the...

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Identifiers

PMID: 8981019
DOI: 10.1055/s-0029-1211719

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8981019-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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