PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
PMID 23165780 2012 Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.
PMID 21735175 2012 Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).