Molecular diagnosis is important to confirm suspected pseudoachondroplasia

J Med Genet. 2000 Jan;37(1):64-5. doi: 10.1136/jmg.37.1.64.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Achondroplasia / diagnosis*
  • Achondroplasia / genetics*
  • Adult
  • Amino Acid Substitution
  • Cartilage / metabolism
  • Cartilage Oligomeric Matrix Protein
  • Child, Preschool
  • Exons
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Genes, Dominant
  • Glycoproteins / genetics*
  • Humans
  • Male
  • Matrilin Proteins
  • Mutation*
  • Osteochondrodysplasias / genetics*
  • Sequence Deletion

Substances

  • Cartilage Oligomeric Matrix Protein
  • Extracellular Matrix Proteins
  • Glycoproteins
  • Matrilin Proteins
  • TSP5 protein, human