A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. [electronic resource]
Producer: 20190715Description: 572-579 p. digitalISSN:- 1530-0366
- Adolescent
- Child
- Child, Preschool
- Choroid Plexus -- physiopathology
- Chromatin Assembly and Disassembly -- genetics
- DNA Helicases -- genetics
- DNA-Binding Proteins -- genetics
- Exome
- Facies
- Female
- Genetic Association Studies
- Humans
- Hydrocephalus -- genetics
- Hyperplasia -- genetics
- Infant
- Intellectual Disability -- genetics
- Male
- Nuclear Proteins -- genetics
- Phenotype
- SMARCB1 Protein -- genetics
- Transcription Factors -- genetics
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Publication Type: Case Reports; Journal Article
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