Diets, Illja J <br/><br/>
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics  03 2019 
 - 572-579 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1530-0366 
<br/><br/><label>Standard No.: </label>10.1038/s41436-018-0079-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Child, Preschool<br/>Choroid Plexus--physiopathology<br/>Chromatin Assembly and Disassembly--genetics<br/>DNA Helicases--genetics<br/>DNA-Binding Proteins--genetics<br/>Exome<br/>Facies<br/>Female<br/>Genetic Association Studies<br/>Humans<br/>Hydrocephalus--genetics<br/>Hyperplasia--genetics<br/>Infant<br/>Intellectual Disability--genetics<br/>Male<br/>Nuclear Proteins--genetics<br/>Phenotype<br/>SMARCB1 Protein--genetics<br/>Transcription Factors--genetics