Associated Papers
Detection Rate of Cataract-Related Gene Variants in Sporadic Childhood Cataract Patients in Southern China.
Luo Z et al.
American Journal of Ophthalmology, 2025
Analysis of mouse lens morphological and proteomic abnormalities following deletion of the βB3-crystallin promoter.
Rayêe D et al.
Experimental Eye Research, 2025
First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.
Stingl JV et al.
Journal of Clinical Medicine, 2021
Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.
Zin OA et al.
Genes, 2021
Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.
Rechsteiner D et al.
Jama Ophthalmology, 2021
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell S et al.
Genes, 2021
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.
Taylan Sekeroglu H et al.
Molecular Syndromology, 2020
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.
Li D et al.
Molecular Vision, 2016
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