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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Detalles Bibliográficos
Autores principales: Gliem, Martin, Zaeytijd, Julie De, Finger, Robert P., Holz, Frank G., Leroy, Bart P., Issa, Peter Charbel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617449/
https://www.ncbi.nlm.nih.gov/pubmed/23577018
http://dx.doi.org/10.3389/fgene.2013.00014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617449/
https://www.ncbi.nlm.nih.gov/pubmed/23577018
http://dx.doi.org/10.3389/fgene.2013.00014

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