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Article

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.

Journal of autoimmunity - 1 Jan 2018

Lo Mindy S, Towne Meghan, VanNoy Grace E, Brownstein Catherine A, Lane Andrew A, Chatila Talal A, Agrawal Pankaj B

Abstract excerpt

BACKGROUND: Risk of autoimmune thyroid disease (AITD) is strongly heritable. Multiple genes confer increased risk for AITD, but a monogenic origin has not yet been described. We studied a family with apparent autosomal dominant, early onset Hashimoto thyroiditis. METHODS: The family was enrolled in an IRB-approved protocol. Whole exome sequencing was used to study the proband and an affected sibling. The...

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PMID: 28942902
DOI: 10.1016/j.jaut.2017.09.003

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