Article
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.
Human molecular genetics - 1 Sept 1999
Jacobsen N J, Lyons I, Hoogendoorn B, Burge S, Kwok P Y, O'Donovan M C, Craddock N, Owen M J
Abstract excerpt
Darier's disease (DD) is a rare, dominantly inherited disorder that affects the skin producing a variety of types of lesion. Close examination of lesional DD skin shows the presence of abnormal keratinization (epidermal differentiation) and acantholysis (loss of cohesion) of keratinocytes. A number of clinical studies have described the co-occurrence of various neurological and psychiatric symptoms with DD,...
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