ea0056p647 | Endocrine tumours and neoplasia | ECE2018
Grigorie Daniel
, Ciuffi Simone
, Franceschelli Francesco
, Sucaliuc Alina
, Brandi Maria Luisa
Introduction: Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of familial hyperparathyroidism associated with ossifying fibromas (OF) of the maxillofacial bones and increased risk of parathyroid carcinoma, caused by inactivating germline mutation of the cell division cycle 73 (CDC73) gene.Case report: We report the first Romanian family with HPT-JT and genetic screening of CDC73 gene. Three of the six...