Gross hematuria and detection of nephrotic syndrome after an athletics event

Detection of the first gross CDC73 germl

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family

✍ Alberto Cascón; Carlos Vázquez Huarte-Mendicoa; L. Javier Leandro-García; Rocío 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 712 KB

## Abstract Hereditary primary hyperparathyroidism (HPT) may develop as a solitary endocrinopathy (FIHP) or as part of multiple endocrine neoplasia Type 1, multiple endocrine neoplasia Type 2A, or hereditary HPT‐jaw tumor syndrome. Inactivating germline mutations of the tumor suppressor gene __CDC7