Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

Abstract 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, the accumulation of neutral lipids inside cytoplasmic lipid droplets...

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Bibliographic Details
Main Authors: Murat Durdu, Sara Missaglia, Laura Moro, Daniela Tavian
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genetics
Subjects:
Chanarin-Dorfman Syndrome
Ichthyosis
Lipid disorder
Liver involvement
Myopathy
Online Access:http://link.springer.com/article/10.1186/s12881-018-0610-0

Internet

http://link.springer.com/article/10.1186/s12881-018-0610-0

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