Clinical and experimental dermatology
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Clin. Exp. Dermatol. · Sep 2005
Case ReportsA homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis.
Epidermodysplasia verruciformis (EV) is a genodermatosis with mainly autosomal recessive inheritance. Pathogenic mutations in two adjacent genes, EVER1 and EVER2, have recently been identified. ⋯ The mutation led to a premature translation termination (R190X) and the predicted protein lacked 537 amino acids. This novel nonsense mutation is, to our knowledge, the first mutation reported in Chinese patients with EV.
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Clin. Exp. Dermatol. · Sep 2005
Letter Case ReportsAcquired port wine stain following oral isotretinoin.