Review
Open access
Jul 2026
Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome
Compound heterozygous LOXL3 variants are associated with the SS phenotype and support the two variants as likely pathogenic and pathogenic respectively following the ACMG guidelines.
Min Ye, Shuai Li, Rui Li et al.
· Frontiers in Genetics · 0 citations