Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2018.00252
Abstract: Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause a spectrum of disorders that ranges from syndromic intellectual disability to Coffin-Siris syndrome (CSS) to Nicolaides-Baraitser syndrome (NCBRS). While… read more here.
Keywords: intellectual disability; snf related; related intellectual; swi snf ... See more keywords