Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
Borochowitz
Z U
ZU
Scheffer
D
D
Adir
V
V
Dagoneau
N
N
Munnich
A
A
Cormier-Daire
V
V
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
D016326:Extracellular Matrix Proteins; D064235:Matrilin Proteins