Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-Jaw Tumor Syndrome.

Rana ToraJames WelchJian SunSunita K AgarwalDebra A BellMaria MerinoLee S WeinsteinWilliam F Simonds Smita Jha

Published in: The Journal of clinical endocrinology and metabolism (2023)

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.

Keyphrases

copy number
cell cycle
case report
chronic rhinosinusitis
dna methylation
cell proliferation
amino acid