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Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome

30 Jul 2026

Abstract excerpt

Objective Stickler syndrome (SS) is a genetically and clinically heterogeneous connective tissue disorder. This study aimed to investigate the genetic etiology in a Chinese patient associated with SS and characterize the novel pathogenic variant. Methods Whole-exome sequencing (WES) was performed on the proband, and Sanger sequencing was conducted on both the proband and all available family members for variant...

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Identifiers

PMID: 42598702
DOI: 10.3389/fgene.2026.1813104

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