Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family

Indian J Dermatol Venereol Leprol. 2021 Jan-Feb;88(1):132. doi: 10.25259/IJDVL_488_20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Asian People / genetics
  • China
  • Erythrokeratodermia Variabilis / genetics*
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Pedigree
  • Spinocerebellar Ataxias / genetics*

Substances

  • ELOVL4 protein, human
  • Eye Proteins
  • Membrane Proteins