Natasha N DeMeo Jeremy D Burgess Patrick R Blackburn Jennifer M Gass John Richter Herjot K Atwal Jay A van Gerpen Paldeep S Atwal
10.1002/ccr3.1265
Clin Case Rep
2017 Nov 20;6(1):8-13.
casr fahr's syndrome pdgfrb autosomal dominant hypocalcaemia primary familial brain calcification whole‐exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/29375828/
Case Reports
PMC5771904
29375828
Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
2017