Yazar "Moro, Laura" için listeleme
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Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
Durdu, Murat; Missaglia, Sara; Moro, Laura; Tavian, Dainela (2018)Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, ... -
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 ...