Dorfman-Chanarin syndrome: A rare neutral lipid storage disease
Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene. A total of 42 cases have been reported worldwide til...
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Wolters Kluwer Medknow Publications,
2010-10-01T00:00:00Z.
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