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Article

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.

European journal of ophthalmology - 1 Jan 2025

Dias Margarida Q, Gouveia Nuno, Félix Raquel, Estrela-Silva Sérgio, Cabral Diogo, Carvalho Ana Luísa, Murta Joaquim, Silva Rufino, Marques João Pedro

Abstract excerpt

INTRODUCTION: Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder originated by disease-causing variants in ABCC6 gene. The purpose of this study was to characterize the genetic landscape, phenotypic spectrum and genotype-phenotype correlations in a Portuguese cohort of PXE patients. METHODS: Multicentric cross-sectional study conducted in patients with a clinical and genetic diagnosis of PXE....

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PMID: 38602027
DOI: 10.1177/11206721241247676

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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