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Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-like Phenotypes
A characteristic feature of classic PXE, an autosomal recessive disorder caused by mutations in the ABCC6 gene, is aberrant mineralization of connective tissues, particularly the elastic fibers. Here, we report a family with PXE-like cutaneous features in association with multiple coagulation factor...
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Main Authors: | , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2008
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2900916/ https://ncbi.nlm.nih.gov/pubmed/18800149 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2008.271 |
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