ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6...

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Detalles Bibliográficos
Autores principales: Moitra, Karobi, Garcia, Sonia, Jaldin, Michelle, Etoundi, Clementine, Cooper, Donna, Roland, Anna, Dixon, Patrice, Reyes, Sandra, Turan, Sevilay, Terry, Sharon, Dean, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535978/
https://www.ncbi.nlm.nih.gov/pubmed/28696355
http://dx.doi.org/10.3390/ijms18071488

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