Should all patients with hyperparathyroidism be screened for a CDC73 mutation?
Primary hyperparathyroidism (PH) is a common endocrine abnormality and may occur as part of a genetic syndrome. Inactivating mutations of the tumour suppressor gene CDC73 have been identified as accounting for a large percentage of hyperparathyroidism-jaw tumour syndrome (HPT-JT) cases and to a less...
Main Authors: | Caroline Bachmeier, Chirag Patel, Peter Kanowski, Kunwarjit Sangla |
---|---|
Format: | Article |
Language: | English |
Published: |
Bioscientifica
2018-03-01
|
Series: | Endocrinology, Diabetes & Metabolism Case Reports |
Online Access: | https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-17-0164 |
Similar Items
-
CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases
by: E O Mamedova, et al.
Published: (2016-10-01) -
Ovarian Granulosa cell Tumor in a Patient with a Pathogenic Variant in the CDC73 Gene (Hyperparathyroidism-Jaw Tumor Syndrome)
by: Rowella Licup Sirbiladze, MD, et al.
Published: (2019-05-01) -
In silico analysis of CDC73 gene revealing 11 novel SNPs with possible association to Hyperparathyroidism-Jaw Tumor syndrome
by: Abdelmoneim Abdelrahman H., et al.
Published: (2020-04-01) -
Succinate Dehydrogenase Subunit B Mutation Presenting with Spermatic Cord and Neck Paraganglioma
by: Caroline Bachmeier, MD, et al.
Published: (2018-07-01) -
Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
by: Vito Guarnieri, et al.
Published: (2017-08-01)