High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. [electronic resource]
- Human mutation Dec 2011
- 1427-35 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.21585 doi
Agenesis of Corpus Callosum--diagnostic imaging Brain--diagnostic imaging Child Child, Preschool Cohort Studies Comparative Genomic Hybridization DNA Copy Number Variations--genetics Epilepsy--diagnostic imaging Female Gene Dosage--genetics Gene Frequency Humans Intellectual Disability--diagnostic imaging Magnetic Resonance Imaging Male Nervous System Malformations--diagnostic imaging Phenotype Proteins--genetics Radiography Tomography Scanners, X-Ray Computed