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Article

Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia.

Hormone research - 1 Jan 1997

Leclère J, Béné M C, Aubert V, Klein M, Pascal-Vigneron V, Weryha G, Faure G

Abstract excerpt

Activating mutations of TSH-R have been described in toxic nodules and more recently in familial nonautoimmune thyrotoxicosis. This last entity is still confused with familial Graves' disease and the aim of this study is to define its phenotype. Based on 49 patients coming from our first family and on the 4 other kindreds secondarily described in the literature, the phenotypic expression is: a high incidence of...

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Source

Identifiers

PMID: 9167947
DOI: 10.1159/000185459

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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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