Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome

JAMA Dermatol. 2016 Jul 1;152(7):844-5. doi: 10.1001/jamadermatol.2016.0350.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy, Needle
  • DNA-Binding Proteins
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Infant
  • Membrane Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Osteopoikilosis / genetics*
  • Osteopoikilosis / pathology*
  • Point Mutation*
  • Prognosis
  • Rare Diseases
  • Severity of Illness Index
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / pathology*

Substances

  • DNA-Binding Proteins
  • LEMD3 protein, human
  • Membrane Proteins
  • Nuclear Proteins

Supplementary concepts

  • Buschke-Ollendorff syndrome