Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-Jaw Tumor Syndrome

CONCLUSIONS: Multiple, recurrent atypical adenomyomatous uterine polyps appear to be enriched in women with HPT-JT and appear characteristic of the disease. Patients with CDC73 variants at p.M1 residue appear predisposed to kidney tumors.PMID:37339334 | DOI:10.1210/clinem/dgad368

Source: The Journal of Clinical Endocrinology and Metabolism - June 20, 2023 Category: Endocrinology Authors: Rana Tora James Welch Jian Sun Sunita K Agarwal Debra A Bell Maria Merino Lee S Weinstein William F Simonds Smita Jha Source Type: research