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McConnell, Vivienne

A5055776009 | I138801177

Mayo Clinic

University of Ulster

Citations 1

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

Science Translational Medicine | March 17, 2010 | Volume: 2 | Issue: 23 | Pages: No page available

10.1126/scitranslmed.3000488 | PMID 20375004

Stiff skin syndrome, an autosomal dominant congenital form of scleroderma, is caused by mutations in the domain of fibrillin-1 that mediates integrin binding.