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

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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Bibliographic Details
Main Authors: Francesco Demetrio Lofaro, Dario Pasquale Mucciolo, Vittoria Murro, Laura Pavese, Daniela Quaglino, Federica Boraldi
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Medicine
Subjects:
ABCC6
calcification
PXE
rare disease
skin
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2021.726856/full

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