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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 sp...

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Source

Identifiers

PMID: 11279527
DOI: 10.1038/86941

Genes

HSPG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11279527-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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

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