An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

Medicine & Life Sciences

• Retinal Dystrophies 100%
• Optic Atrophy 91%
• Microcephaly 85%
• Optic Nerve 72%
• Missense Mutation 72%
• Optic Nerve Hypoplasia 67%
• Calcium-Calmodulin-Dependent Protein Kinases 52%
• Mutation 39%
• Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 33%
• Cyclic Amino Acids 26%
• Cerebellar Hypoplasia 21%
• Retinal Rod Photoreceptor Cells 18%
• Electroretinography 18%
• X-Linked Genes 17%
• Vertebrate Photoreceptor Cells 17%
• Penetrance 16%
• Retinal Ganglion Cells 16%
• Loss of Function Mutation 15%
• Mutant Proteins 15%
• Proline 14%
• Leucine 14%
• Protein Domains 14%
• Computer Simulation 13%
• Calcium 9%
• Phenotype 8%
• Genes 5%
• Proteins 5%