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Ichthyosis bullosa is a unique epidermolytic ichthyosis that is characterized by epidermolytic hyperkeratosis, absence of erythroderma and preferential involvement of the extremities. We have identified mutations in the rod domaine of keratin 2e in patients with ichthyosis bullosa of Siemens from 6 different families. These mutations occurred in a mutational hot-spot in the helix termination site...
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