Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland-Smith, Valérie Biancalana, Robert J. Gorlin, Denise Horn, Susan J. Kenwrick, Chong A. Kim, Eva Morava, Ruth Newbury-Ecob, Karen H. Ørstavik, Oliver W.J. Quarrell, Charles E. Schwartz, Deborah J. Shears, Mohnish Suri, John Kendrick-Jones, C. Bacino, K. Becker, J. Clayton-Smith, M. Giovannucci-UzielliD. Goh, D. Grange, M. Krajewska-Welasek, D. Lacombe, C. Morris, S. Odent, R. Savarirayan, R. Stratton, A. Superti-Furga, A. Verloes, J. Vigneron, W. Wilcox, R. Winter, K. Young, O. M. Wilkie

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Biochemistry, Genetics and Molecular Biology