Citations 2

Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer

JAMA | April 7, 2015 | Volume: 313 | Issue: 13 | Pages: 1347

10.1001/jama.2014.5985 | PMID 25849179

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.