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

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Add MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

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  • Abidi, Fatima E. (1)
  • Bauters, Mareike (1)
  • Boyle, Jackie (1)
  • Corbett, Mark (1)
  • Cox, James (1)
  • Frints, Suzanna Gerarda Maria (1)
  • Futreal, Andrew P. (1)
  • Gecz, Jozef (1)
  • Grigg, John (1)
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  • Allan-Herndon-Dudley syndrome (1)
  • CASK gene (1)
  • MCT8 (1)
  • X-inactivation (1)
  • congenital nystagmus (1)
  • expression (1)
  • intellectual disability (1)
  • mutation analysis (1)

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