Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy

Clin Dysmorphol. 2020 Jan;29(1):53-60. doi: 10.1097/MCD.0000000000000283.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Femoral Fractures* / diagnostic imaging
  • Femoral Fractures* / genetics
  • Humans
  • Lamin Type A / genetics*
  • Lipid Metabolism, Inborn Errors* / diagnosis
  • Lipid Metabolism, Inborn Errors* / genetics
  • Lipodystrophy* / diagnostic imaging
  • Lipodystrophy* / genetics
  • Male
  • Point Mutation*

Substances

  • LMNA protein, human
  • Lamin Type A