Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG)

J Dermatol. 2018 Jan;45(1):104-105. doi: 10.1111/1346-8138.13737. Epub 2016 Dec 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acyltransferases / genetics*
  • Biopsy
  • DNA Mutational Analysis
  • Female
  • Focal Dermal Hypoplasia / genetics*
  • Focal Dermal Hypoplasia / pathology
  • Humans
  • Membrane Proteins / genetics*
  • Sequence Deletion
  • Skin / pathology

Substances

  • Membrane Proteins
  • Acyltransferases
  • PORCN protein, human