A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant

Gene. 2024 Jul 1:914:148379. doi: 10.1016/j.gene.2024.148379. Epub 2024 Mar 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acidosis, Lactic* / genetics
  • Anemia / genetics
  • Asian People / genetics
  • Cardiomyopathy, Hypertrophic* / genetics
  • China
  • East Asian People
  • Female
  • Homozygote*
  • Humans
  • Infant
  • Male
  • Mutation