Human type 1 Iodothyronine deiodinase (DIO1) mutations cause abnormal thyroid hormone metabolism.

CONCLUSIONS: We report the identification and characterization of two missense DIO1 pathogenic variants identified in families with abnormal thyroid hormone metabolism. This is the first demonstration of inherited D1 deficiency in humans. PMID: 32718224 [PubMed - as supplied by publisher]
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research