Cardiovascular findings in congenital contractural arachnodactyly: Report of an affected kindred

Clustering ofFBN2 mutations in patients

Clustering ofFBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development

✍ Park, Eun-Sook; Putnam, Elizabeth A.; Chitayat, David; Child, Anne; Milewicz, Di 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB

## Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition phenotypically related to Marfan syndrome (MFS). CCA is caused by mutations in FBN2, whereas MFS results from mutations in FBN1. FBN2 mRNA extracted from 12 unrelated CCA patient cell strains was screened for mutati