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

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
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