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Multiple Cemento-Ossifying Fibroma: A Sign of Hyperparathyroidism-Jaw Tumour Syndrome.

Nurul Inaas Mahamad ApandiNor Nazaliza BasriAjura Abdul JalilMd Arad Jelon
Published in: Case reports in dentistry (2023)
Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant disease. It is caused by a gene mutation of the tumour suppressor gene CDC73 that encodes for parafibromin. This syndrome predisposes to a triad occurrence of multiple maxillary or mandibular cemento-ossifying fibroma, parathyroid adenoma or carcinoma, and renal and uterine tumours. In this study, we report a case of HPT-JT occurring in a 30-year-old male patient.
Keyphrases
  • case report
  • gene expression
  • copy number
  • genome wide identification