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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Main Authors: Murat Durdu (Author), Sara Missaglia (Author), Laura Moro (Author), Daniela Tavian (Author)
Format: Book
Published: BMC, 2018-05-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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