Neuroradiologic Features ofCASKMutations

Calcium/calmodulin-dependent serine protein kinase and mental retardation

(2009) Yi-Ping Hsueh   ANNALS OF NEUROLOGY

A developmental and genetic classification for midbrain-hindbrain malformations

(2009) A. J. Barkovich et al.   BRAIN

Pontine hypoplasia in 5p-syndrome: A key MRI finding for a diagnosis

(2009) Takeshi Ninchoji et al.   BRAIN & DEVELOPMENT

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

(2009) Anna Hackett et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TheCASKgene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation

(2008) Shin Hayashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS