Novel CASK mutations in cases with syndromic microcephaly

Keyphrases

• Syndromic 100%
• Microcephaly 100%
• Loss Function 50%
• Point mutation 50%
• Functional Consequences 25%
• Brain Development 25%
• Neuroanatomical 25%
• Zebrafish 25%
• Tractable Models 25%
• Whole Exome Sequencing 25%
• Pathogenicity 25%
• Zebrafish Model 25%
• Information-centric 25%
• Population Data 25%
• Phenotypic Outcome 25%
• Recapitulation 25%
• Cerebellar Hypoplasia 25%
• Transient Losses 25%
• X-linked Intellectual Disability 25%

Neuroscience

• Microcephaly 100%
• CASK 100%
• Point Mutation 40%
• In Vivo 20%
• Brain Development 20%
• Exome Sequencing 20%
• Hypoplasia 20%

Biochemistry, Genetics and Molecular Biology

• CASK 100%
• Point Mutation 40%
• Zebra Fish 40%
• Mental Retardation 20%
• Genetics 20%
• Exome Sequencing 20%
• Brain Development 20%