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Identification of <i>SMARCD1</i> as a syndromic intellectual disability gene that is required for memory and context-dependent regulation of neuronal genes in <i>Drosophila</i>

2018-09-25

Abstract excerpt

Mutations in several genes encoding components of the SWI/SNF chromatin remodeling complex cause syndromic intellectual disability (ID). Here, we report on 5 individuals with mutations in the SMARCD1 gene, presenting with ID, developmental delay, hypotonia, feeding difficulties, and small extremities. The mutations were proven to be de novo in 4 of the 5 individuals. Mutations in other SWI/SNF components cause C...

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Literature Corpus work
c2bda7c3-ba9d-5a19-a2ec-dae8cb18b6dd
DOI
10.1101/422188
Open publication

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