Synopsis
primary hyperparathyroidism
ossifying fibromas of the maxilla and mandible (30 %)
renal cysts
solid tumors
parathyroid carcinoma
Etiology
mutations in the HRPT2 (1q25-q32) encoding parafibromin
References
Tan MH, Teh BT. Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. Curr Mol Med. 2004 Dec;4(8):895-7. PMID: #15579037#