ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

Examines the association between variant cutaneous phenotypes and missense mutations of adenosine triphosphate 2A2 of Darier's disease. Clinical manifestations; Severity of the disease; Distribution of desmosomal components in the matrix; Uptake of cytosolic calcium in the endoplasmic reticulum.