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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 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

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Add Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

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

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Author/Creator
  • Raymond, F. Lucy (3)
  • Schwartz, Charles E. (3)
  • Turner, Gillian (3)
  • Whibley, Annabel (3)
  • Corbett, Mark (2)
  • Edkins, Sarah (2)
  • Futreal, P. Andrew (2)
  • Gecz, Jozef (2)
Keyword
  • CASK gene (1)
  • JARID1C (1)
  • JmjC domain (1)
  • X-chromosome coding (1)
  • X-linked mental retardation (1)
  • XLMR (1)
  • congenital nystagmus (1)
  • disease (1)
  • disease-causing mutations (1)
  • genetic etiology (1)

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