Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.
Mignon-Ravix, Cécile
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. [electronic resource] - Journal of medical genetics Feb 2010 - 132-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2009.069112 doi
14-3-3 Proteins--genetics
Adult
Animals
Brain--diagnostic imaging
Child, Preschool
Chromosomes, Human, Pair 17
Cohort Studies
Comparative Genomic Hybridization
Corpus Callosum--pathology
Female
Gene Deletion
Gene Expression
Humans
Magnetic Resonance Imaging
Male
Membrane Proteins--genetics
Mice
Mice, Knockout
Organ Specificity
Periventricular Nodular Heterotopia--diagnostic imaging
Phenotype
Radiography
Tumor Suppressor Proteins--genetics
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. [electronic resource] - Journal of medical genetics Feb 2010 - 132-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2009.069112 doi
14-3-3 Proteins--genetics
Adult
Animals
Brain--diagnostic imaging
Child, Preschool
Chromosomes, Human, Pair 17
Cohort Studies
Comparative Genomic Hybridization
Corpus Callosum--pathology
Female
Gene Deletion
Gene Expression
Humans
Magnetic Resonance Imaging
Male
Membrane Proteins--genetics
Mice
Mice, Knockout
Organ Specificity
Periventricular Nodular Heterotopia--diagnostic imaging
Phenotype
Radiography
Tumor Suppressor Proteins--genetics