New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant

Arq Neuropsiquiatr. 2021 Jul;79(7):656-657. doi: 10.1590/0004-282X-ANP-2020-0424.
No abstract available

MeSH terms

  • Bone and Bones / abnormalities
  • Dwarfism* / diagnostic imaging
  • Dwarfism* / genetics
  • Humans
  • Limb Deformities, Congenital* / diagnostic imaging
  • Limb Deformities, Congenital* / genetics
  • Lordosis* / diagnostic imaging
  • Lordosis* / genetics
  • Magnetic Resonance Imaging
  • Mutation
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics

Substances

  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

  • Hypochondroplasia