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

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

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 daughter....

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Bibliographic Details
Main Authors: Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E. C. Cole
Format: Article
Language:English
Published: BMC 2017-08-01
Series:BMC Medical Genetics
Subjects:
Parathyroid carcinoma
HPT-JT syndrome
Germline
CDC73
Online Access:http://link.springer.com/article/10.1186/s12881-017-0445-0

Internet

http://link.springer.com/article/10.1186/s12881-017-0445-0

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