Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort
Dias, Margarida Q ; Gouveia, Nuno ; Félix, Raquel ; Estrela-Silva, Sérgio ; Cabral, Diogo ; Carvalho, Ana Luísa ; Murta, Joaquim ; Silva, Rufino ; Marques, João Pedro
European journal of ophthalmology, 2024-04, p.11206721241247676 [Periódico revisado por pares]United States
Texto completo disponível