A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report

A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report

Abstract Background Hyperparathyroidism-Jaw Tumor (HPT-JT) is caused by inactivating germline mutations of CDC73. This hereditary disease can present with a range of symptoms. Jaw ossifying fibroma (OF) is one of the most important clinical presentations, affecting 30% of HPT-JT patients. However, O...

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Bibliographic Details
Main Authors: Dun Yang, Jiaoyun Zheng, Fei Tang, Qiongzhi He, Hui Huang, Peng Zhou
Format: Article
Language:English
Published: BMC 2022-09-01
Series:Diagnostic Pathology
Subjects:
HPT-JT
Heritable jaw OF
Genetic testing
CDC73
MEST
Online Access:https://doi.org/10.1186/s13000-022-01248-x

Internet

https://doi.org/10.1186/s13000-022-01248-x

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