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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, ...
Recurrent N209* ABHD5 Mutation In Two Unreported Families With Chanarin Dorfman Syndrome
(2021)
ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman ...