ARID1B, LYS1777TER
National Institutes of Health
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Inhibitory interneurons are essential for proper brain development and function. Dysfunction of interneurons is implicated in…
Haploinsufficiency of the AT-rich interactive domain 1B (ARID1B) gene causes autism spectrum disorder and intellectual disability…
Mutations in the gene encoding AT-rich interactive domain-containing protein 1B (ARID1B) were recently associated with multiple…
BackgroundMutations in genes encoding components of the Brahma-associated factor (BAF) chromatin remodeling complex have recently…
Here, we report on a male patient with developmental delay, speech impairment, mild dysmorphic features, and borderline…