Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

DeMeo, N. N., Burgess, J. D., Blackburn, P. R., Gass, J. M., Richter, J., Atwal, H. K., van Gerpen, J. A. and Atwal, P. S. (2018) Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. Clinical Case Reports, 6(1), pp. 8-13. (doi: 10.1002/ccr3.1265) (PMID:29375828) (PMCID:PMC5771904)

Abstract

No abstract available.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Atwal, Dr Paldeep
• Authors: DeMeo, N. N., Burgess, J. D., Blackburn, P. R., Gass, J. M., Richter, J., Atwal, H. K., van Gerpen, J. A., and Atwal, P. S.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Clinical Case Reports
• Publisher: Wiley
• ISSN: 2050-0904
• ISSN (Online): 2050-0904
• Published Online: 20 November 2017
• Copyright Holders: Copyright © 2017 The Authors
• First Published: First published in Clinical Case Reports 6(1): 8-13
• Publisher Policy: Reproduced under a Creative Commons License