Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

Clelia Prattichizzo, Marina Macca, Valeria Novelli, Giovanna Giorgio, Adriano Barra, Brunella Franco, F. Abdulla, M. Abramowicz, S. W. Amy, I. Schafer, A.A. Bankier, S. White, M. G. Barcina, L. E. Bartoshesky, K. Jenny, F. A. Beemer, G.P. Benke, R. C. Betz, G. Bianchini, L. GaravelliS. Bigoni, L. Bird, J. Chibuk, D. Masser-Frye, N. Brunetti, A. Scarcella, Han G. Brunner, J. Burn, R. Carmi, C. Castellan, P. Castelluccio, B. Castle, M. A. Chiong, E. M. Cutiongco, FS Collins, E. Couchon, A. Curry, M. Pastore, C. Curry, A. Swenerton, T. Treisman, J. Dean, Koen Devriendt, G. Matthijs, J. W. Dunlap, V. Shashi, N.H. Elcioglu, P. Farndon, G. B. Ferrero, R. Ferrier, N. Foulds, Joel M. Friedman, A. Gal-Yam, U. Orth, Michael G. Gardner, O. Gerola, Gabriele Gillessen-Kaesbach, F. Giuliano, C. Turc-Carel, E. Gödde, V. Graber, G. E. Graham, F. Gurrieri, L. Harbour, A. Henderson, E. Jones, H. Heran, T. Homfray, R. Taylor, E. Iwarsson, Olaf P. Jensen, A. Jezela-Stanek, S. Joss, G. Taylor, S. L. Keeling, R. Klatt, A. Teebi, M. Klehr-Martinelli, D. Kotzot, M. Lees, S. Loughlin, K. Lhotta, F.A. Macdonald, F. Mari, A. Renieri, Sandrine Marlin, Julie McGaughran, F. McKenzie, D. R. McLeod, A. Megarbane, C. R. Mota, J. Mucke, A. Tzschach, E. Obersztyn, R. Okhowat, A. Shinzel, R. Pfau, B. Pober, F. Lucy Raymond, E. Reich, T. Reimschisel, J. Robertson, J. Roggenbuck, A. Sabato, J. Sanchez Del Pozo, C. Schell-Apacik, E. Schwaab, A. Selicorni, S. Sell, Sarah L. Smithson, A. Stray-Pedersen, T. Tan, H. Thiese, Marie Jose Van Tol, O. Toprak, D. Trump, J. Whittaker, D. Williams, L. Zelante, B. Zoll

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Biochemistry, Genetics and Molecular Biology