From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report

Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disease clinically characterised by early cutaneous alterations, and by late clinically relevant ocular, and cardiovascular manifestations. ABCC6 genetic tests are used to confirm clinical PXE diagnosis, but this strategy may be rather cha...

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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: Frontiers Media S.A. 2021
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427021/
https://www.ncbi.nlm.nih.gov/pubmed/34513887
http://dx.doi.org/10.3389/fmed.2021.726856

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