Associated Papers
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L et al.
Orphanet Journal of Rare Diseases, 2012
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
Hackett A et al.
European Journal of Human Genetics : Ejhg, 2010
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