Associated Papers
Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.
Gong X et al.
Frontiers in Pediatrics, 2026
Detection Rate of Cataract-Related Gene Variants in Sporadic Childhood Cataract Patients in Southern China.
Luo Z et al.
American Journal of Ophthalmology, 2025
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.
Guo D et al.
Progress in Retinal and Eye Research, 2025
A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract.
Liu Y et al.
Gene, 2024
A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.
Kong Y et al.
Molecular Genetics and Genomics : Mgg, 2023
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
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