A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma

A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma

Activating mutations in thyrotropin receptor (TSHR) have been previously described in the context of nonautoimmune hyperthyroidism and thyroid adenomas. We describe, for the first time, a mutation in TSHR contributing to follicular thyroid carcinoma (FTC) in an adolescent. A 12-year-old girl present...

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Bibliographic Details
Main Authors: James Blackburn, Dinesh Giri, Barbara Ciolka, Nicole Gossan, Mohammad Didi, George Kokai, Alison Waghorn, Matthew Jones, Senthil Senniappan
Format: Article
Language:English
Published: Wiley 2018-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2018/1381730
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