A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter

Abstract excerpt

BACKGROUND: gene was reported as a novel genetic abnormality associated with familial multinodular goiter. That report was limited, and the pathogenic features were not well established. PATIENT FINDINGS: We report a 47-year-old Japanese woman who presented with hyperthyroidism and a large multinodular goiter. The family history was notable for a paternal history of goiter. Graves' disease was diagnosed based on...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Thyroid and Parathyroid Surgery
• Share to Thyroid Cancer Diagnosis and Treatment
• Share to Thyroid Disorders and Treatments