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. [electronic resource]
Producer: 20040223Description: e128 p. digitalISSN:- 1468-6244
- Brain -- abnormalities
- Brain Diseases -- diagnosis
- Cerebral Cortex
- Choristoma -- diagnosis
- Chromosome Breakage
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 6
- DNA Mutational Analysis
- Genetic Predisposition to Disease
- Glutathione Transferase -- genetics
- Humans
- Lateral Ventricles
- Magnetic Resonance Imaging
- Male
- Pedigree
- Phenotype
- Translocation, Genetic
- alpha-Mannosidase -- genetics
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Publication Type: Case Reports; Letter; Research Support, U.S. Gov't, P.H.S.
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