Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene


Perlecan is a large heparan sulfate (HS) proteoglycan present in all basement membranes and in some other tissues such as cartilage, and is implicated in cell growth and differentiation. Mice lacking the perlecan gene (Hspg2) have a severe chondrodysplasia with dyssegmental ossification of the spine and show radiographic, clinical and chondro-osseous… (More)
DOI: 10.1038/86941


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