Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome.
Loeys, B. L.; Gerber, E. E.; Riegert-Johnson, D.; Iqbal, S.; Whiteman, P.; McConnell, V.; Chillakuri, C. R.; Macaya, D.; Coucke, P. J.; De Paepe, A.; Judge, D. P.; Wigley, F.; Davis, E. C.; Mardon, H. J.; Handford, P.; Keene, D. R.; Sakai, L. Y.; Dietz, H. C.; Science Translational Medicine, 2010, vol. 2, issue 23, p 1, ISSN 19466234. ISBN 19466234.

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