Login / Signup

End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants.

Nicholas S WilcoxStuart B PrennerMarisa CevascoCourtney ConditAmy GoldsteinJames T PetersonIsabella Tondi RestaMatthew PalmerPriti LalAnjali Tiku OwensJanice PierettiTheodore G DrivasNosheen Reza
Published in: Circulation. Genomic and precision medicine (2022)
Keyphrases
  • copy number
  • oxidative stress
  • intellectual disability
  • heart failure
  • autism spectrum disorder