TY - GEN AU - Mignon-Ravix,Cécile AU - Cacciagli,Pierre AU - El-Waly,Bilal AU - Moncla,Anne AU - Milh,Mathieu AU - Girard,Nadine AU - Chabrol,Brigitte AU - Philip,Nicole AU - Villard,Laurent TI - Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia SN - 1468-6244 PY - 2010///0506 KW - 14-3-3 Proteins KW - genetics KW - Adult KW - Animals KW - Brain KW - diagnostic imaging KW - Child, Preschool KW - Chromosomes, Human, Pair 17 KW - Cohort Studies KW - Comparative Genomic Hybridization KW - Corpus Callosum KW - pathology KW - Female KW - Gene Deletion KW - Gene Expression KW - Humans KW - Magnetic Resonance Imaging KW - Male KW - Membrane Proteins KW - Mice KW - Mice, Knockout KW - Organ Specificity KW - Periventricular Nodular Heterotopia KW - Phenotype KW - Radiography KW - Tumor Suppressor Proteins N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1136/jmg.2009.069112 ER -