ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis

Am J Med Genet A. 2021 May;185(5):1619-1623. doi: 10.1002/ajmg.a.62136. Epub 2021 Mar 3.
No abstract available

Keywords: ELOVL4; erythrokeratoderma; genodermatoses; ichthyosis; neurodermatology; screening.

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / pathology
  • Eye Proteins / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Ichthyosis / genetics
  • Keratosis / genetics
  • Keratosis / pathology
  • Male
  • Malignant Atrophic Papulosis / genetics*
  • Malignant Atrophic Papulosis / pathology
  • Membrane Proteins / genetics*
  • Spine / pathology
  • Young Adult

Substances

  • ELOVL4 protein, human
  • Eye Proteins
  • Membrane Proteins