A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases

A case of a patient with an early and severe visual impairment is described. Due to the occurrence of skin papules a suspect of pseudoxanthoma elasticum (PXE) was posed. PXE is a rare autosomal recessive disease clinically characterized by skin, cardiovascular and ocular manifestations, these last b...

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Detalles Bibliográficos
Autores principales: Lofaro, Francesco Demetrio, Mucciolo, Dario Pasquale, Murro, Vittoria, Pavese, Laura, Quaglino, Daniela, Boraldi, Federica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534466/
https://www.ncbi.nlm.nih.gov/pubmed/34679498
http://dx.doi.org/10.3390/diagnostics11101800

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