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Last Updated: 10/31/2025
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Found 3723 publications
Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy.
Journal: Cureus
Published: September 18, 2025
In Silico Modelling of the AQP0 T138R Mutation and its' links to Potential Mechanisms of Cataractogenesis.
Journal: Research square
Published: September 05, 2025
Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.
Journal: Investigative ophthalmology & visual science
Published: August 20, 2025
Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.
Journal: Investigative ophthalmology & visual science
Published: August 13, 2025
Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 05, 2025
Leveraging genetic testing for cataract diagnosis: novel NHS variant guides the diagnosis to Nance-Horan syndrome, a case study.
Journal: Ophthalmic genetics
Published: July 24, 2025
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract.
Journal: Molecular genetics and metabolism
Published: July 16, 2025
Mettl3 Regulates Lens Development by Promoting the Differentiation Processes of Secondary Fiber Cells.
Journal: Investigative ophthalmology & visual science
Published: July 15, 2025
Erratum in: Dysregulation of Autophagy Occurs During Congenital Cataract Development in βA3ΔG91 Mice.
Journal: Investigative ophthalmology & visual science
Published: June 24, 2025
Last Updated: 10/31/2025