Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusi...
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect
About this item
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Publisher
United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Contents
Background
Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF‐β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes.
Methods and Results
Consistent with previous reports, we found intracellular inclusions of unknown materi...
Alternative Titles
Full title
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect
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TN_cdi_doaj_primary_oai_doaj_org_article_42b6c438eba842e49075dd898d23d7e7
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_42b6c438eba842e49075dd898d23d7e7
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.844
