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.
Z U Borochowitz ,  D Scheffer ,  V Adir ,  N Dagoneau ,  A Munnich ,  V Cormier-Daire
PMID: 15121775 DOI: 10.1136/jmg.2003.013342