A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome

A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome

BackgroundHereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by CDC73 mutations with variable clinical pr...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Yian Gu, Yuanyuan Ye, Hua Shu, Lina Chang, Yinghui Xie, Fengao Li, Tiehong Zhu, Ming Liu, Qing He
Μορφή: Άρθρο
Γλώσσα:English
Έκδοση: Frontiers Media S.A. 2024-01-01
Σειρά:Frontiers in Endocrinology
Θέματα:
hereditary primary hyperparathyroidism
hyperparathyroidism-jaw tumor syndrome
parathyroid carcinoma
CDC73 gene
parafibromin
Διαθέσιμο Online:https://www.frontiersin.org/articles/10.3389/fendo.2024.1330185/full

Διαδίκτυο

https://www.frontiersin.org/articles/10.3389/fendo.2024.1330185/full

Παρόμοια τεκμήρια