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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Format: | Book |
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BMC,
2018-05-01T00:00:00Z.
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A1234.567 |
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