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

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CASK point mutation regulates protein–protein interactions and NR2b promoter activity

(2009) Tzyy-Nan Huang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN 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

CASK Functions as a Mg2+-Independent Neurexin Kinase

(2008) Konark Mukherjee et al.   CELL

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