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Article

A family with a novel TSH receptor activating germline mutation (p.Ala485Val).

European journal of pediatrics - 1 Nov 2008

Akcurin Sema, Turkkahraman Doga, Tysoe Carolyn, Ellard Sian, De Leener Anne, Vassart Gilbert, Costagliola Sabine

Abstract excerpt

Autosomal dominant nonautoimmune hyperthyroidism (ADNAH) is caused by gain of function mutations in the TSH receptor (TSHr) gene and characterized by toxic thyroid hyperplasia with a variable age of onset in the absence of thyroid antibodies and clinical symptoms of autoimmune thyroid disease in at least two generations. We report here a Turkish family with a novel TSHr gene mutation with distinct features all...

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Identifiers

PMID: 18175146
DOI: 10.1007/s00431-007-0659-9

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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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