Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

J Med Genet. 2004 May;41(5):366-72. doi: 10.1136/jmg.2003.013342.
No abstract available

Publication types

  • Letter

MeSH terms

  • Bone and Bones / diagnostic imaging
  • Chromosome Mapping
  • Dwarfism / diagnosis
  • Dwarfism / genetics
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Matrilin Proteins
  • Mutation*
  • Osteochondrodysplasias / classification
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Radiography

Substances

  • Extracellular Matrix Proteins
  • Matrilin Proteins