Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

• Main Authors: Vito Guarnieri (Author), Raewyn M. Seaberg (Author), Catherine Kelly (Author), M. Jean Davidson (Author), Simon Raphael (Author), Andrew Y. Shuen (Author), Filomena Baorda (Author), Orazio Palumbo (Author), Alfredo Scillitani (Author), Geoffrey N. Hendy (Author), David E. C. Cole (Author)
• Format: Book
• Published: BMC, 2017-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daugh...