An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2011.10252.x/fullpdf
Reference10 articles.
1. Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases;Srebrnik;Am J Dermatopathol,1998
2. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome;Pujol;Br J Dermatol,2005
3. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome;Lefevre;Am J Hum Genet,2001
4. Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: identification of novel mutations in the ABHD5 gene;Emre;Eur J Med Genet,2010
5. Rapid detection of homozygous mutations in congenital recessive ichthyosis;Lugassy;Arch Dermatol Res,2008
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