Citations 1
Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR
DeMeo, Natasha N. , Burgess, Jeremy D. , Blackburn, Patrick R. , Gass, Jennifer , Richter, John E. , Atwal, Herjot, Gerpen, Jay A. van, Atwal, Paldeep S. , Gass, Jennifer M , Richter, John, Atwal, Herjot K, Van Gerpen, Jay A, Atwal, Paldeep S
Clinical Case Reports | November 20, 2017 | Volume: 6 | Issue: 1 | Pages: 8-13
Key Clinical Message This case report describes an individual with brain calcifications, cognitive decline, motor dysfunction, and hypocalcaemia. Exome sequencing revealed a previously reported variant in the CASR gene and a variant of uncertain significance in PDGFRB . The clinical phenotype is likely explained by the CASR variant, but we discuss how the PDGFRB variant could also participate in the phenotype.