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Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients
Mar 2, 2025
—
by
coffinsiris-foundation
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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature
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