TY  - GEN
AU  - Leeflang,E P
AU  - Marsh,S E
AU  - Parrini,E
AU  - Moro,F
AU  - Pilz,D
AU  - Dobyns,W B
AU  - Guerrini,R
AU  - Wheless,J W
AU  - Gleeson,J G
TI  - 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
SN  - 1468-6244
PY  - 2004///0223
KW  - Brain
KW  - abnormalities
KW  - Brain Diseases
KW  - diagnosis
KW  - Cerebral Cortex
KW  - Choristoma
KW  - Chromosome Breakage
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 1
KW  - Chromosomes, Human, Pair 6
KW  - DNA Mutational Analysis
KW  - Genetic Predisposition to Disease
KW  - Glutathione Transferase
KW  - genetics
KW  - Humans
KW  - Lateral Ventricles
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Pedigree
KW  - Phenotype
KW  - Translocation, Genetic
KW  - alpha-Mannosidase
N1  - Publication Type: Case Reports; Letter; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1136/jmg.40.12.e128
ER  -