Condition: Hyperkeratosis pilaris
rs387907144
in
ARID1B
gene and
Hyperkeratosis pilaris
PMID 22426309
2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
PMID 26350204
2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.