Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients

Acta Derm Venereol. 2017 Jul 6;97(7):853-854. doi: 10.2340/00015555-2648.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyltransferases / genetics*
  • Adolescent
  • DNA Mutational Analysis
  • Female
  • Focal Dermal Hypoplasia / enzymology
  • Focal Dermal Hypoplasia / genetics*
  • Focal Dermal Hypoplasia / pathology
  • Gene Deletion*
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Membrane Proteins / genetics*
  • Mosaicism*
  • Mutation*
  • Phenotype
  • Skin / pathology*
  • Young Adult

Substances

  • Genetic Markers
  • Membrane Proteins
  • Acyltransferases
  • PORCN protein, human