Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest

Am J Med Genet A. 2024 Jun;194(6):e63557. doi: 10.1002/ajmg.a.63557. Epub 2024 Feb 2.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Diseases, Metabolic, Inborn*
  • Enchondromatosis* / diagnosis
  • Enchondromatosis* / genetics
  • Enchondromatosis* / pathology
  • Humans
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics
  • Mutation / genetics

Supplementary concepts

  • 2-Hydroxyglutaricaciduria