MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

Am J Med Genet A. 2010 Nov;152A(11):2916-8. doi: 10.1002/ajmg.a.33712.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / metabolism*
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Collagen / metabolism*
  • Dermis / pathology
  • Dermis / ultrastructure
  • Elastin / metabolism*
  • Female
  • Foot Deformities, Congenital / complications
  • Golgi Apparatus / metabolism*
  • Golgi Apparatus / pathology*
  • Hand Deformities, Congenital / complications
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Protein Transport
  • Syndrome

Substances

  • Collagen
  • Elastin