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

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, OF is eas...

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Detalles Bibliográficos
Autores principales: Yang, Dun, Zheng, Jiaoyun, Tang, Fei, He, Qiongzhi, Huang, Hui, Zhou, Peng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508707/
https://www.ncbi.nlm.nih.gov/pubmed/36153594
http://dx.doi.org/10.1186/s13000-022-01248-x