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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar 17; 2(23):23ra20.

View in: PubMed

subject areas
  • Biopsy
  • Cell Adhesion
  • Cell Movement
  • Collagen
  • DNA Mutational Analysis
  • Elastin
  • Extracellular Matrix
  • Family
  • Female
  • Fibrillin-1
  • Fibrillins
  • Humans
  • Immunohistochemistry
  • Male
  • Mesoderm
  • Microfibrils
  • Microfilament Proteins
  • Mutation
  • Pedigree
  • Phenotype
  • Scleroderma, Systemic
  • Signal Transduction
  • Skin
  • Syndrome
  • Transforming Growth Factor beta

authors with profiles
  • Daniel P Judge