Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

J Med Genet. 2004 Jan;41(1):75-9. doi: 10.1136/jmg.2003.013722.
No abstract available

Publication types

  • Letter
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Collagen Type II / genetics*
  • DNA Mutational Analysis
  • Female
  • Fetal Death / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / mortality
  • Radiography
  • Thanatophoric Dysplasia / diagnostic imaging
  • Thanatophoric Dysplasia / genetics*
  • Thanatophoric Dysplasia / mortality

Substances

  • COL2A1 protein, human
  • Collagen Type II

Associated data

  • OMIM/183900
  • OMIM/187600
  • OMIM/187610
  • OMIM/200610