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Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma.
- Source :
-
Acta ophthalmologica [Acta Ophthalmol] 2017 May; Vol. 95 (3), pp. e249-e250. Date of Electronic Publication: 2016 Sep 28. - Publication Year :
- 2017
- Subjects :
- Adolescent
Adult
Child
Eye Proteins metabolism
Female
Genotype
Glaucoma diagnosis
Glaucoma metabolism
Humans
Male
Pedigree
Pupil Disorders diagnosis
Pupil Disorders genetics
Pupil Disorders metabolism
Young Adult
Chromosomes, Human, Pair 13 genetics
Eye Proteins genetics
Genetic Testing methods
Glaucoma genetics
Point Mutation
Pupil Disorders congenital
Subjects
Details
- Language :
- English
- ISSN :
- 1755-3768
- Volume :
- 95
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Acta ophthalmologica
- Publication Type :
- Editorial & Opinion
- Accession number :
- 27678338
- Full Text :
- https://doi.org/10.1111/aos.13246