COL4A1 | Ehsan Misaghihttps://ehsanmisaghi.com/tags/col4a1/COL4A1HugoBlox Kit (https://hugoblox.com)en-usFri, 05 Dec 2025 00:00:00 +0000https://ehsanmisaghi.com/media/icon.svgCOL4A1https://ehsanmisaghi.com/tags/col4a1/Twists and Turns: What Retinal Vessel Tortuosity is Trying to Tell Ushttps://ehsanmisaghi.com/presentations/2025-col4a1-rounds/Fri, 05 Dec 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-col4a1-rounds/<p>Invited Ophthalmology Grand Rounds presentation on retinal vessel tortuosity and COL4A1-related disease, focusing on ocular phenotype, diagnostic strategy, and translational validation (functional characterization of a COL4A1 Variant)</p>A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational familyhttps://ehsanmisaghi.com/presentations/2025-grc-col4a1/Tue, 01 Jul 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-grc-col4a1/A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational familyhttps://ehsanmisaghi.com/presentations/2025-cos-col4a1/Sun, 01 Jun 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-cos-col4a1/A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational familyhttps://ehsanmisaghi.com/presentations/2025-eshg-col4a1/Sat, 24 May 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-eshg-col4a1/