Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference34 articles.
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2. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12);den Hollander;Nat Genet,1999
3. Mutations in the CRB1 gene cause Leber congenital amaurosis;Lotery;Arch Ophthalmol,2001
4. CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation;Lotery;Ophthalmic Genet,2001
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1. Optical Coherence Tomography Feature of Retinoschisis in CRB1-Associated Maculopathy;JAMA Ophthalmology;2023-12-28
2. Characterization and AAV-mediated CRB gene augmentation in human-derived CRB1KO and CRB1KOCRB2+/− retinal organoids;Molecular Therapy - Methods & Clinical Development;2023-12
3. A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility;Documenta Ophthalmologica;2023-10-07
4. Case report: Familial foveal retinoschisis caused by CRB1 gene mutation in a family with recessive inheritance;Frontiers in Medicine;2023-08-11
5. Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina;The Journal of Pathology;2023-02-09
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