Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. [electronic resource]
Producer: 20100311Description: 825-33 p. digitalISSN:- 1468-6244
- 1-Alkyl-2-acetylglycerophosphocholine Esterase -- genetics
- 14-3-3 Proteins -- genetics
- Abnormalities, Multiple -- genetics
- Adolescent
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 17 -- genetics
- Classical Lissencephalies and Subcortical Band Heterotopias -- genetics
- DNA -- genetics
- Female
- Humans
- Male
- Microtubule-Associated Proteins -- genetics
- Oligonucleotide Array Sequence Analysis
- Polymerase Chain Reaction
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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