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Article

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases

21 Jul 2012

Abstract excerpt

BACKGROUND: Congenital erythropoietic porphyria (CEP) is an autosomal recessive cutaneous porphyria caused by decreased activity of uroporphyrinogen III synthase (UROS). Its predominant characteristics include bullous cutaneous photosensitivity to visible light from early infancy, progressive photomutilation and chronic haemolytic anaemia. Due to its rarity and genetic heterogeneity, clinical phenotypes are...

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PMID: 22816431
DOI: 10.1111/j.1365-2133.2012.11160.x

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