Clinical features of type 2 Stickler syndrome

J Med Genet. 2004 Aug;41(8):e107. doi: 10.1136/jmg.2004.018382.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Collagen Type XI / genetics
  • Connective Tissue Diseases / genetics
  • Connective Tissue Diseases / pathology*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / pathology*
  • Pedigree
  • Retinal Detachment / congenital*
  • Retinal Detachment / genetics
  • Retinal Detachment / pathology*
  • Syndrome

Substances

  • Collagen Type XI