De novo and familial DDX3X mutations are associated with X-linked intellectual disability and a diverse phenotypic spectrum

Snijders-Blok, L; Madsen, E; Reijnders, M; Venselaar, H; Helsmoortel, C; Gilissen, C; Hoischen, A; Vissers, L; Koemans, T; Wissink, W; Eichler, EE; Romano, C; Van Esch, Hilde; Stumpel, C; Vreeburg, M; Smeets, E; Van Bon, B; Shaw, M; Gecz, J; Bienek, M; Jensen, C; Loeys, B; Van Dijck, A; Innes, AM; Di Donato, N; Mehta, SG; Tatton-Brown, K; Baralle, D; Henseron, A; Dijkstra, S; Schieving, J; Haas, S; Brunner, H; Kooy, F; Van Roozendaal, C; Pfundt, R; Kalscheuer, V; Katsanis, N; Kleestra, T

Online abstracts

De novo and familial DDX3X mutations are associated with X-linked intellectual disability and a diverse phenotypic spectrum

Author:

Snijders-Blok, L

Madsen, E ; Reijnders, M ; Venselaar, H ; Helsmoortel, C ; Gilissen, C ; Hoischen, A ; Vissers, L ; Koemans, T ; Wissink, W ; Eichler, EE ; Romano, C ; Van Esch, Hilde ; Stumpel, C ; Vreeburg, M ; Smeets, E ; Van Bon, B ; Shaw, M ; Gecz, J ; Bienek, M ; Jensen, C ; Loeys, B ; Van Dijck, A ; Innes, AM ; Di Donato, N ; Mehta, SG ; Tatton-Brown, K ; Baralle, D ; Henseron, A ; Dijkstra, S ; Schieving, J ; Haas, S ; Brunner, H ; Kooy, F ; Van Roozendaal, C ; Pfundt, R ; Kalscheuer, V ; Katsanis, N ; Kleestra, T

Online abstracts De novo and familial DDX3X mutations are associated with X-linked intellectual disability and a diverse phenotypic spectrum

Author:

Online abstracts

De novo and familial DDX3X mutations are associated with X-linked intellectual disability and a diverse phenotypic spectrum