Combined pituitary hormone deficiency caused by a synonymous HESX1 gene mutation.

CONCLUSIONS: This study of a patient with combined pituitary hormone deficiency revealed an unusual synonymous mutation of the HESX1 gene leading to abnormal RNA processing and underlines the importance of investigating silent variants that at first glance appear to be benign. PMID: 30888394 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research