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An update on the ocular phenotype in patients with pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE) is an inherited multi-system disorder characterized by ectopic mineralization and fragmentation of elastic fibers in the skin, the elastic laminae of blood vessels and Bruch’s membrane in the eye. Biallelic mutations in the ATP-binding cassette (ABC) transporter gene A...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3617449/ https://ncbi.nlm.nih.gov/pubmed/23577018 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2013.00014 |
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