Clinical Utility Gene Card for: incontinentia pigmenti

Por Fusco, Francesca, Pescatore, Alessandra, Steffann, Julie, Royer, Ghislaine, Bonnefont, Jean-Paul, Ursini, Matilde Valeria
Publicado em 2013

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Por Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold, Vekemans, Michel, Colleaux, Laurence
Publicado em 2010