American journal of ophthalmology۲۰۲۵مطالعه مشاهده ای۷ استنادنمایه شده در PubMed
Antoine Constant, Alejandra Daruich, Federico Bernabei, Matthieu P Robert, Cyril Burin-Des-Roziers, Sophie Valleix, Dominique Bremond-Gignac, Antoine P Brézin, Pierre-Raphaël Rothschild
چکیده
To describe and compare the ophthalmologic and extraophthalmologic features of patients with Stickler syndrome because of pathogenic variants in COL2A1 and COL11A1. Retrospective cross-sectional study nested in a multicentric cohort study. Records of patients with a confirmed molecular diagnosis of…
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DOI: 10.1016/j.ajo.2025.09.011