Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12


rs387907144 in ARID1B gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs1555031372 in DPF2 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 PMID 29429572 2018 Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.