Browsing by Subject "Darier disease"

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Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype

Gordon-Smith, K; Green, E; Grozeva, D; Tavadia, S; Craddock, N; Jones, L (Wiley, 2018-12)

Darier disease (DD) is an autosomal dominant skin disorder caused by mutations in ATP2A2 encoding the sarco/endoplasmic reticulum Ca2+ ATPase Isoform 2 (SERCA2). Evidence of a population-level association between DD and ...