Absence of Goniodysgenesis in Patients with Chromosome 13Q Microdeletion-Related Microcoria
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference10 articles.
1. Submicroscopic deletions at 13q32.1 cause congenital microcoria;Fares-Taie;Am J Hum Genet,2015
2. Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma;Sergouniotis;Acta Ophthalmol,2017
3. Familial cases of congenital microcoria associated with late onset congenital glaucoma and goniodysgenesis;Tawara;Japanese J Ophthalmol,1983
4. Association of congenital microcoria with myopia and glaucoma. A study of 23 patients with congenital microcoria;Toulemont;Ophthalmology,1995
5. cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate;Klambauer;Nucleic Acids Res,2012
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1. Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort;International Journal of Molecular Sciences;2024-06-13
2. A rare case of congenital pupillary abnormality: a case report;BMC Ophthalmology;2022-05-02
3. 13q32.1 as a candidate region for physiological anisocoria;British Journal of Ophthalmology;2022-03-10
4. Congenital Microcoria: Clinical Features and Molecular Genetics;Genes;2021-04-22
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