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Article

Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.

Thyroid : official journal of the American Thyroid Association - 1 Apr 2020

França Monica M, Levine Robert L, Pappa Theodora, Ilaka-Chibuluzo Sandra, Rothberger Gary D, Dumitrescu Alexandra M, Refetoff Samuel

Abstract excerpt

Nonautoimmune hyperthyroidism caused by activating mutations in the GNAS gene is a rare condition. In this study, we report a five-year-old girl diagnosed with nonautoimmune hyperthyroidism and tall stature harboring a somatic mosaic gain-of-function mutation in the GNAS gene (NM_080425.3: c.2530C>T;p.Arg844Cys previously reported as NM_000516.5:c.601C>T;p.Arg201Cys) and referred to thereafter as R201C, in three...

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Identifiers

PMID: 31910104
DOI: 10.1089/thy.2019.0471
PMCID: PMC7187975

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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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