title: Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
authors.forename: Z U
authors.initials: ZU
authors.lastname: Borochowitz
authors.forename: D
authors.initials: D
authors.lastname: Scheffer
authors.forename: V
authors.initials: V
authors.lastname: Adir
authors.forename: N
authors.initials: N
authors.lastname: Dagoneau
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging; D002874:Chromosome Mapping; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D064235:Matrilin Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011859:Radiography
chemical_list: D016326:Extracellular Matrix Proteins; D064235:Matrilin Proteins