A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome

Clin Dysmorphol. 2020 Jan;29(1):69-72. doi: 10.1097/MCD.0000000000000304.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Ehlers-Danlos Syndrome* / genetics
  • Ehlers-Danlos Syndrome* / pathology
  • Ehlers-Danlos Syndrome* / physiopathology
  • Female
  • Frameshift Mutation*
  • Humans
  • Ion Channels / genetics*
  • Kyphosis* / genetics
  • Kyphosis* / pathology
  • Kyphosis* / physiopathology
  • Neuromuscular Diseases* / genetics
  • Neuromuscular Diseases* / pathology
  • Neuromuscular Diseases* / physiopathology
  • Scoliosis* / genetics
  • Scoliosis* / pathology
  • Scoliosis* / physiopathology

Substances

  • Ion Channels
  • PIEZO2 protein, human