Yazar "31883530" için Tıp Fakültesi / Faculty of Medicine listeleme
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A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
Eskiocak, Ali Haydar; Missaglia, Sara; Moro, Laura; Durdu, Murat; Tavian, Daniela (2019)Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations ...