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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Hlavní autoři:	Dun Yang, Jiaoyun Zheng, Fei Tang, Qiongzhi He, Hui Huang, Peng Zhou
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2022-09-01
Edice:	Diagnostic Pathology
Témata:	HPT-JT Heritable jaw OF Genetic testing CDC73 MEST
On-line přístup:	https://doi.org/10.1186/s13000-022-01248-x
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