Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score

Background: Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification genetic disease mainly caused by ABCC6 rare sequence variants. The clinical phenotype is characterized by typical dermatological, ophthalmological and cardiovascular manifestations, whose frequency and severity are differentl...

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Detalles Bibliográficos
Autores principales: Boraldi, Federica, Murro, Vittoria, Lofaro, Francesco Demetrio, Mucciolo, Dario Pasquale, Costa, Sonia, Pavese, Laura, Quaglino, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8235548/
https://www.ncbi.nlm.nih.gov/pubmed/34205333
http://dx.doi.org/10.3390/jcm10122710

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8235548/
https://www.ncbi.nlm.nih.gov/pubmed/34205333
http://dx.doi.org/10.3390/jcm10122710

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