Kurum Yazarı "Öğreden, Tülin Aras" Tıp Fakültesi İçin Listeleme
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Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature
Öğreden, Tülin Aras; Erdoğan, Gürkan (2024)Background: Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents ...