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Familial pseudoxanthoma elasticum with nephrocalcinosis: a case report
Lacerda, P.; Beirão, I.; Pestana, P.; Beirão, J.M.; Freitas, C.; Rocha, M.J.; Cabrita, A.; Costa, P.P.Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by progressive calcification and fragmentation of elastic fibres. PXE commonly involves the reticular dermis, the Bruch membrane of the eye, and blood vessels. PXE is caused by mutations in the ABCC6 gene. More than 300 pathogenic ABCC6 mutations are known. Two of these mutations are common: p.R1141X in exon 24, with a preva...
Data: 2013
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Origem: Repositório Científico do Instituto Nacional de Saúde
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