Congenital linear streaks on the face and neck and microphthalmia in an infant girl

Acta Derm Venereol. 2014 May;94(3):342-3. doi: 10.2340/00015555-1688.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Atrophy
  • DNA Mutational Analysis
  • Female
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / pathology
  • Genetic Diseases, X-Linked / therapy
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Lyases / genetics*
  • Microphthalmos / diagnosis
  • Microphthalmos / genetics*
  • Microphthalmos / pathology
  • Microphthalmos / therapy
  • Mutation*
  • Phenotype
  • Skin / pathology*
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / genetics*
  • Skin Abnormalities / pathology
  • Skin Abnormalities / therapy

Substances

  • Lyases
  • cytochrome C synthetase

Supplementary concepts

  • Microphthalmia, syndromic 7