Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein·2012·Nature Genetics

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  24. Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
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  42. The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior
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  45. Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome
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  47. Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease
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  89. Expanding the phenotypic spectrum associated with DPF2: A new case report
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