Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus۲۰۲۵گزارش مورد۱ استنادنمایه شده در PubMed
Sidratul Rahman, Vincent Sun, Christine Saint-Martin, Daniela Toffoli
چکیده
We report 4 patients with Coffin-Siris syndrome (CSS), all exhibiting midline brain abnormalities and all showing either optic nerve hypoplasia or dysplasia. Each of the patients has a unique pathogenic variant in CSS-related genes, including SMARCA4, SMARCB1, SMARCE1, and ARID2, all of which…
متن کامل چکیده در سایت ناشر در دسترس است.
DOI: 10.1016/j.jaapos.2025.104682