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...

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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:	Artigo
言語:	Inglês
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
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