Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2023.1123327
Abstract: Purpose FINCA disease (Fibrosis, Neurodegeneration and Cerebral Angiomatosis, OMIM 618278) is an infantile-onset neurodevelopmental and multiorgan disease. Since our initial report in 2018, additional patients have been described. FINCA is the first human disease caused… read more here.
Keywords: nhlrc2 variants; patients nhlrc2; novel patients; finca disease ... See more keywords