Homozygous TRAP1 sequence variant in a child with Leigh syndrome and normal kidneys

Kidney Int. 2014 Oct;86(4):860. doi: 10.1038/ki.2014.208.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Anal Canal / abnormalities*
  • Animals
  • DNA Mutational Analysis*
  • Esophagus / abnormalities*
  • Exosomes*
  • Female
  • Genetic Testing*
  • HSP90 Heat-Shock Proteins*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Kidney / abnormalities*
  • Limb Deformities, Congenital / genetics*
  • Male
  • Mutation*
  • Spine / abnormalities*
  • Trachea / abnormalities*
  • Vesico-Ureteral Reflux / genetics*

Substances

  • HSP90 Heat-Shock Proteins