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...

詳細記述

書誌詳細
主要な著者: Yian Gu, Yuanyuan Ye, Hua Shu, Lina Chang, Yinghui Xie, Fengao Li, Tiehong Zhu, Ming Liu, Qing He
フォーマット: 論文
言語:English
出版事項: Frontiers Media S.A. 2024-01-01
シリーズ:Frontiers in Endocrinology
主題:
hereditary primary hyperparathyroidism
hyperparathyroidism-jaw tumor syndrome
parathyroid carcinoma
CDC73 gene
parafibromin
オンライン･アクセス:https://www.frontiersin.org/articles/10.3389/fendo.2024.1330185/full

インターネット

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

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