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Article

Structural insights on perlecan and Schwartz-Jampel syndrome.

Matrix biology : journal of the International Society for Matrix Biology - 1 Jun 2025

Sohail Anil A, Koski M Kristian, Ruddock Lloyd W

Abstract excerpt

Perlecan is an essential multi-domain, disulfide bond rich basement membrane protein. Mutations in perlecan cause Schwartz-Jampel syndrome and dyssegmental dysplasia. While there has been a large body of experimental work reported on perlecan, there is only minimal structural information available to date. There is no prior structural data for region 3 of perlecan in which some Schwartz-Jampel syndrome causing...

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Identifiers

PMID: 40118124
DOI: 10.1016/j.matbio.2025.03.002

Genes

EGF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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