A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2230.2002.01031.x/fullpdf
Reference11 articles.
1. Keratoderma hereditaria mutilans;Vohwinkel;Arch Dermatol Syphil,1929
2. Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome);Camisa;Arch Dermatol,1984
3. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome;Maestrini;Nature Genet,1996
4. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis;Korge;J Invest Dermatol,1997
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