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Dyssegmental dysplasia, Silverman‐Handmaker type: Unexpected role of perlecan in cartilage development#

1 Dec 2001

Abstract excerpt

Dyssegmental dysplasia, Silverman-Handmaker type (DDSH), is a lethal autosomal recessive form of dwarfism with characteristic anisospondylic micromelia. The remarkable similarities in the radiographic, clinical, and chondroosseous morphology of DDSH patients to those of perlecan-null mice led to the identification of mutations in the perlecan gene (HSPG2) of DDSH. Perlecan, a large heparan sulfate proteoglycan,...

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PMID: 11891676
DOI: 10.1002/ajmg.10229

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Dyssegmental dysplasia, Silverman‐Handmaker type: Unexpected role of perlecan in cartilage development#PMID 11891676Read ↗

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