JAMA ophthalmology۲۰۲۵۳ استنادنمایه شده در PubMed
Manar Salameh, Ghadeer Abu Tair, Samira Mousa, Alexey Obolensky, Anand Swaroop, Susanne Roosing, Eedy Mezer, Shiri Soudry, Marianthi Karali, Francesca Simonelli, Sandro Banfi, Eyal Banin, Tamar Ben-Yosef, Dror Sharon, Samer Khateb
چکیده
Uncovering the genetic basis of inherited retinal diseases (IRDs) can enhance both diagnostic accuracy and the development of targeted treatment strategies. To evaluate the association between a homozygous nonsense variant in CREB3 with IRDs. Thirteen patients with a clinical diagnosis of retinitis…
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DOI: 10.1001/jamaophthalmol.2025.2187