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Article

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

Nature genetics - 1 Apr 2001

Arikawa-Hirasawa E, Wilcox W R, Le A H, Silverman N, Govindraj P, Hassell J R, Yamada Y

Abstract excerpt

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 morphology similar to a lethal autosomal recessive disorder in...

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Source

Identifiers

PMID: 11279527
DOI: 10.1038/86941

Genes

HSPG2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.PMID 11279527Read ↗

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

Role of perlecan in skeletal development and diseases.Semantic proximity Read ↗

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.Semantic proximity Read ↗

Prenatal Diagnosis of HSPG2-Related Dyssegmental Dysplasia: The First Report From Turkey.Semantic proximity Read ↗

Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.Semantic proximity Read ↗

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.Semantic proximity Read ↗

Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome.Semantic proximity Read ↗

Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.Semantic proximity Read ↗

Perlecan, A Multi-Functional, Cell-Instructive, Matrix-Stabilizing Proteoglycan With Roles in Tissue Development Has Relevance to Connective Tissue Repair and RegenerationSemantic proximity Read ↗

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).Semantic proximity Read ↗

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