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

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 C...

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Detalles Bibliográficos
Autores principales: DeMeo, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A., Atwal, Paldeep S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771904/
https://www.ncbi.nlm.nih.gov/pubmed/29375828
http://dx.doi.org/10.1002/ccr3.1265

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771904/
https://www.ncbi.nlm.nih.gov/pubmed/29375828
http://dx.doi.org/10.1002/ccr3.1265

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