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

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&g...

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Bibliografiska uppgifter
I publikationen:Thyroid
Huvudupphovsmän: França, Monica M., Levine, Robert L., Pappa, Theodora, Ilaka-Chibuluzo, Sandra, Rothberger, Gary D., Dumitrescu, Alexandra M., Refetoff, Samuel
Materialtyp: Artigo
Språk:Inglês
Publicerad: Mary Ann Liebert, Inc., publishers 2020
Ämnen:
Brief Report on Novel Mutations Associated with Inherited Thyroid Disorders
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7187975/
https://ncbi.nlm.nih.gov/pubmed/31910104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2019.0471
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