Acitretin-Responsive Ichthyosis in Chanarin-Dorfman Syndrome with a Novel Mutation in theABHD5/CGI-58 Gene-Reference-Cited by-同舟云学术

Acitretin-Responsive Ichthyosis in Chanarin-Dorfman Syndrome with a Novel Mutation in theABHD5/CGI-58 Gene

Published:2013-06-12 Issue:5 Volume:31 Page:612-614
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Srinivasaraghavan Rangan¹,Krishnamurthy Sriram¹,Chandar Rumesh¹,Cassandrini Denise²,Mahadevan Subramanian¹,Bruno Claudio³,Santorelli Filippo M.²

Affiliation:

1. Department of Pediatrics; Jawaharlal Institute of Postgraduate Medical Education and Research; Pondicherry India

2. IRCCS Fondazione Stella Maris; Pisa Italy

3. Center of Myology; Pediatric Neurology and Muscle Diseases Unit; Department of Neuroscience and Rehabilitation; IRCCS Giannina Gaslini Institute; Genova Italy

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12170/fullpdf

Reference5 articles.

1. Ichthyosis and neutral lipid storage disease;Williams;Am J Med Genet,1985

2. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome;Lefèvre;Am J Hum Genet,2001

3. Dorfman-Chanarin syndrome;Gandhi;Indian J Dermatol Venereol Leprol,2007

4. Beneficial effect of acitretin in Chanarin-Dorfman syndrome;Israeli;Clin Exp Dermatol,2012

5. Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts;Igal;J Biol Chem,1996

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