Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
- Creator: So, J. , Suckow, V. , Kijas, Z. , Kalscheuer, V. , Moser, B. , Winter, J. , Baars, M. , Firth, H. , Lunt, P. , Hamel, B. , Meinecke, P. , Moraine, C. , Odent, S. , Schinzel, A. , van der Smagt, J. J. , Devriendt, K. , Albrecht, B. , Gillessen-Kaesbach, G. , van der Burgt, I. , Petrij, F. , Faivre, L. , McGaughran, J. , McKenzie, Fiona , Opitz, J. M. , Cox, T. , Schweiger, S.
- Resource Type: journal article
- Date: 2005
Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS)
- Creator: Wieland, I. , Reardon, W. , Jakubiczka, S. , Franco, B. , Kress, W. , Vincent-Delorme, C. , Thierry, P. , Edwards, Matthew , Konig, R. , Rusu, C. , Schweiger, S. , Thompson, E. , Tinschert, S. , Stewart, F. , Wieacker, P.
- Resource Type: journal article
- Date: 2005