Molecular analysis of 26 Ellis van Creveld syndrome (EVC) families using targeted NGS, MLPA and array CGH techniques reveals high frequency of a recurrent maternal deletion of EVC

Huber, C; Baujat, G; Zarbrate, M; Bole-Feysot, C; Masson, C; Nitschké, P; Nusbaum, S; Francannet, C; Megarbané, A; Martin-Coignard, D; Alembik, Y; Alex-Cordier, M; Devriendt, Koenraad; Dieux, A; Faivre, L; Gonzales, M; Laurent, N; Manouvrier, S; Mathieu, M; Paris, A; Pelluard, F; Spacini, L; Saunier, S; Malan, V; Cormier-Daire, V

online abstracts

Molecular analysis of 26 Ellis van Creveld syndrome (EVC) families using targeted NGS, MLPA and array CGH techniques reveals high frequency of a recurrent maternal deletion of EVC

Author:

Huber, C

Baujat, G ; Zarbrate, M ; Bole-Feysot, C ; Masson, C ; Nitschké, P ; Nusbaum, S ; Francannet, C ; Megarbané, A ; Martin-Coignard, D ; Alembik, Y ; Alex-Cordier, M ; Devriendt, Koenraad ; Dieux, A ; Faivre, L ; Gonzales, M ; Laurent, N ; Manouvrier, S ; Mathieu, M ; Paris, A ; Pelluard, F ; Spacini, L ; Saunier, S ; Malan, V ; Cormier-Daire, V

online abstracts Molecular analysis of 26 Ellis van Creveld syndrome (EVC) families using targeted NGS, MLPA and array CGH techniques reveals high frequency of a recurrent maternal deletion of EVC

Author:

online abstracts

Molecular analysis of 26 Ellis van Creveld syndrome (EVC) families using targeted NGS, MLPA and array CGH techniques reveals high frequency of a recurrent maternal deletion of EVC