Rapid whole-genome sequencing identifies a novel [electronic resource]
Producer: 20170922ISSN:- 2373-2873
- Brain -- cytology
- Developmental Disabilities -- complications
- Electroencephalography
- Genome -- genetics
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Infant
- Intellectual Disability -- complications
- Magnetic Resonance Imaging
- Male
- Mutation
- Receptors, GABA-A -- genetics
- Spasms, Infantile -- complications
- gamma-Aminobutyric Acid -- genetics
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Publication Type: Case Reports; Journal Article
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