Article
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Molecular genetics & genomic medicine - 1 Apr 2021
Gatticchi Leonardo, Vešelényiová Dominika, Miertus Jan, Enrico Maltese Paolo, Manara Elena, Costantini Alisia, Benedetti Sabrina, Ďurovčíková Darina, Krajcovic Juraj, Bertelli Matteo
Abstract excerpt
BACKGROUND: The rapid spread of genome-wide next-generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well-characterized molecular diagnosis. Here, we describe two patients with a rare combination of skeletal abnormalities and retinal dystrophy caused by variants in the SLC26A2 and ABCA4 genes,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.