Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

Keyphrases

• Cone-rod Dystrophy 100%
• Clinical Characterization 100%
• Homozygosity Mapping 100%
• Novel mutation 100%
• Mutation Characterization 100%
• ABCA4 50%
• Non-consanguineous 50%
• Retinal Dystrophy 33%
• CABP4 33%
• KCNV2 33%
• PROM1 33%
• CERKL 33%
• Optical Coherence Tomography 16%
• Clinical Characteristics 16%
• Autosomal Recessive 16%
• Ophthalmic Examination 16%
• Genetic Defects 16%
• Funduscopy 16%
• Sequence Variants 16%
• Autofluorescence 16%
• Retinal Thinning 16%
• Consanguineous 16%
• Six Genes 16%
• New mutation 16%
• Debris Accumulation 16%
• Retinal Remodeling 16%
• Molecular Findings 16%

Medicine and Dentistry

• Cone Rod Dystrophy 100%
• Homozygosity 100%
• Retina Dystrophy 33%
• Optical Coherence Tomography 16%
• Symptom 16%
• Autofluorescence 16%
• Ophthalmoscopy 16%
• Agents Acting on the Eye 16%
• Autosomal Recessive Inheritance 16%
• Genetic Disorder 16%

Biochemistry, Genetics and Molecular Biology

• ABCA4 100%
• Homozygosity 100%
• Genetics 33%
• Optics 33%
• Autosomal Recessive Inheritance 33%
• Autofluorescence 33%