Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients

Abstract excerpt

BACKGROUND: The thyroid hormone receptor α gene (THRA) transcript is alternatively spliced to generate either thyroid hormone receptor (TR)α1 or a non-hormone-binding variant protein, TRα2, the function of which is unknown. Here, we describe the first patients identified with a mutation in THRA that affects both TRα1 and TRα2, and compare them with patients who have resistance to thyroid hormone owing to a...

Topics

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

• Share to Growth Hormone and Insulin-like Growth Factors
• Share to Ophthalmology and Eye Disorders
• Share to Thyroid Disorders and Treatments