Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 that mediate...

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Bibliographic Details
Main Authors:	Loeys, B, Gerber, E, Riegert-Johnson, D, Iqbal, S, Whiteman, P, McConnell, V, Chillakuri, C, Macaya, D, Coucke, P, De Paepe, A, Judge, D, Wigley, F, Davis, E, Mardon, H, Handford, P, Keene, DR, Sakai, L, Dietz, H
Format:	Journal article
Language:	English
Published:	2010

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

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