Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Medicine"
DOI: 10.1186/s10020-020-00245-4
Abstract: Background FINCA disease is a pediatric cerebropulmonary disease caused by variants in the NHL repeat-containing 2 ( NHLRC2 ) gene. Neurological symptoms are among the first manifestations of FINCA disease, but the consequences of NHLRC2… read more here.
Keywords: finca disease; mouse model; developing neurons; disease ... See more keywords
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