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A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
(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 ...
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
(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, ...