Case report
Open access
Sep 2026
Whole‐Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia
To report CPAMD8 variants identified by whole‐exome sequencing (WES) in two Chinese families presenting with congenital cataract or pathologic myopia (PM) and to evaluate the evidence supporting their genotype–phenotype relationships.
Qiu Xie, Qiao Wang, Ya-Nan Liu et al.
· Molecular Genetics & Genomic... · 0 citations