A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
Illja J. Diets(Radboud University Nijmegen), Tjitske Kleefstra(Radboud University Nijmegen)
Cited by 35
Related Papers
Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation
|The American Journal of Human Genetics|2005|376
High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation
|The American Journal of Human Genetics|2004|213
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
|The American Journal of Human Genetics|2018|91
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies
|Genome Medicine|2017|14
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
|Human Genetics and Genomics Advances|2022|10