TY - JOUR
T1 - Hyperparathyroidism-Jaw Tumor Syndrome
T2 - A Case Report
AU - Schmidt, Brian P.
AU - Bradrick, Jon P.
AU - Gabali, Ali
PY - 2009/2
Y1 - 2009/2
N2 - Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare multitumor syndrome that includes primary hyperparathyroidism, fibro-osseous lesions of the mandible and maxilla, renal tumors and cysts, and uterine tumors. It was first reported by Jackson in 1958. Since then, multiple cases have been identified. This syndrome has an autosomal dominant pattern of inheritance, and is linked to a mutation in the gene HRPT2 on the long arm of chromosome 1 that encodes for a protein parafibromin. Although the exact function of parafibromin is currently unknown, it is believed to be involved in tumor suppression.
AB - Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare multitumor syndrome that includes primary hyperparathyroidism, fibro-osseous lesions of the mandible and maxilla, renal tumors and cysts, and uterine tumors. It was first reported by Jackson in 1958. Since then, multiple cases have been identified. This syndrome has an autosomal dominant pattern of inheritance, and is linked to a mutation in the gene HRPT2 on the long arm of chromosome 1 that encodes for a protein parafibromin. Although the exact function of parafibromin is currently unknown, it is believed to be involved in tumor suppression.
UR - http://www.scopus.com/inward/record.url?scp=58149250301&partnerID=8YFLogxK
U2 - 10.1016/j.joms.2008.07.015
DO - 10.1016/j.joms.2008.07.015
M3 - Article
SN - 0278-2391
VL - 67
SP - 423
EP - 427
JO - Journal of Oral and Maxillofacial Surgery
JF - Journal of Oral and Maxillofacial Surgery
IS - 2
ER -