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

CONCLUSIONS: This study describes the genetic spectrum of patients with PXE for the first time in a Portuguese cohort. A total of 16 different variants in ABCC6 were found (7 of which are novel), thus highlighting the genotypic heterogeneity associated with this condition and expanding its mutational spectrum. Still, no major genotype-phenotype associations could be established.PMID:38602027 | DOI:10.1177/11206721241247676

Source: European Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Margarida Q Dias Nuno Gouveia Raquel F élix S érgio Estrela-Silva Diogo Cabral Ana Lu ísa Carvalho Joaquim Murta Rufino Silva Jo ão Pedro Marques Source Type: research