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