Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

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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Bibliographic Details
Main Authors: Mitra Souvik, Samanta Moumita, Sarkar Mihir, Chatterjee Sukanta
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2010-10-01
Series:Indian Journal of Pathology and Microbiology
Subjects:
CGI-58
Dorfman-Chanarin syndrome
ichthyosis
Jordan′s anomaly
leucocyte vacuoles
Online Access:http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2010;volume=53;issue=4;spage=799;epage=801;aulast=Mitra

Internet

http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2010;volume=53;issue=4;spage=799;epage=801;aulast=Mitra

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