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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...

Ful tanımlama

Kaydedildi:
Asıl Yazarlar: Yian Gu, Yuanyuan Ye, Hua Shu, Lina Chang, Yinghui Xie, Fengao Li, Tiehong Zhu, Ming Liu, Qing He
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2024-01-01
Seri Bilgileri:Frontiers in Endocrinology
Konular:
hereditary primary hyperparathyroidism
hyperparathyroidism-jaw tumor syndrome
parathyroid carcinoma
CDC73 gene
parafibromin
Online Erişim:https://www.frontiersin.org/articles/10.3389/fendo.2024.1330185/full
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