Article
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.
The Journal of investigative dermatology - 1 Sept 1994
Kremer H, Zeeuwen P, McLean W H, Mariman E C, Lane E B, van de Kerkhof C M, Ropers H H, Steijlen P M
Abstract excerpt
Ichthyosis bullosa of Siemens is a blistering disorder with autosomal dominant inheritance. The disease resembles bullous congenital ichthyosiform erythroderma but is less severe. Keratins K1 and K10 have been implicated in bullous congenital ichthyosiform erythroderma. Linkage analysis pointed to the involvement of a keratin type II gene (12q11-13) in ichthyosis bullosa of Siemens. Mutations in the highly...
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