title: Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
authors.forename: E P
authors.initials: EP
authors.lastname: Leeflang
authors.forename: S E
authors.initials: SE
authors.lastname: Marsh
authors.forename: E
authors.initials: E
authors.lastname: Parrini
authors.forename: F
authors.initials: F
authors.lastname: Moro
authors.forename: D
authors.initials: D
authors.lastname: Pilz
authors.forename: W B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: R
authors.initials: R
authors.lastname: Guerrini
authors.forename: J W
authors.initials: JW
authors.lastname: Wheless
authors.forename: J G
authors.initials: JG
authors.lastname: Gleeson
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002540:Cerebral Cortex; D002828:Choristoma / Q000175:diagnosis / Q000235:genetics*; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002896:Chromosomes, Human, Pair 6; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005982:Glutathione Transferase / Q000235:genetics* / Q000502:physiology; D006801:Humans; D020547:Lateral Ventricles; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D043323:alpha-Mannosidase / Q000235:genetics* / Q000502:physiology
chemical_list: D005982:Glutathione Transferase; D043323:alpha-Mannosidase