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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5771904/
https://ncbi.nlm.nih.gov/pubmed/29375828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1265
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados