De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. [electronic resource]
Producer: 20171024Description: 435-443 p. digitalISSN:- 1552-4833
- Brain -- abnormalities
- Child, Preschool
- Comparative Genomic Hybridization
- Exome
- Eye Abnormalities -- diagnosis
- Facies
- Female
- Genetic Association Studies
- High-Throughput Nucleotide Sequencing
- Humans
- Infant, Newborn
- Intellectual Disability -- diagnosis
- Magnetic Resonance Imaging -- methods
- Male
- Phenotype
- Point Mutation
- Polymorphism, Single Nucleotide
- Registries
- SOXB1 Transcription Factors -- genetics
- Sequence Deletion
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Publication Type: Case Reports; Journal Article; Review
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