Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
rs1057517825 in
DERL3;SMARCB1 gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
PMID 26364901 2015 Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
rs398122368 in
SMARCB1 gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.