BRAT1 mutations present with a spectrum of clinical severity. [electronic resource]
Producer: 20171019Description: 2265-73 p. digitalISSN:- 1552-4833
- Brain -- pathology
- Cerebellum -- abnormalities
- Child
- Child, Preschool
- Comparative Genomic Hybridization
- DNA Mutational Analysis
- Epilepsy -- diagnosis
- Exome
- Facies
- Female
- Genetic Association Studies
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Intellectual Disability -- diagnosis
- Magnetic Resonance Imaging
- Male
- Mutation
- Nuclear Proteins -- genetics
- Pedigree
- Phenotype
- Severity of Illness Index
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Publication Type: Case Reports; Journal Article; Review; Research Support, N.I.H., Extramural
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