Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma

MeSH terms

• Adolescent
• Adult
• Child
• Chromosomes, Human, Pair 13 / genetics*
• Eye Proteins / genetics*
• Eye Proteins / metabolism
• Female
• Genetic Testing / methods*
• Genotype
• Glaucoma / diagnosis
• Glaucoma / genetics*
• Glaucoma / metabolism
• Humans
• Male
• Pedigree
• Point Mutation*
• Pupil Disorders / congenital*
• Pupil Disorders / diagnosis
• Pupil Disorders / genetics
• Pupil Disorders / metabolism
• Young Adult