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Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia

6 Jun 2025

Abstract excerpt

Geleophysic dysplasia (GD) is characterized by short stature, brachydactyly, joint limitations, a distinctive facial appearance, as well as cardiac and respiratory dysfunction that can be life-threatening. GD is caused by pathogenic variants in the ADAMTSL2, FBN1, or LTBP3 genes. While dermal fibroblasts derived from affected individuals have shown poor organization of the extracellular matrix (ECM), it remains...

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PMID: 40481143
DOI: 10.1038/s41598-025-04666-1

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