Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

PurposeFINCA 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 by recessive variants in the h...

Full description

Bibliographic Details
Main Authors: Antti Tallgren, Leo Kager, Gina O’Grady, Hannu Tuominen, Jarmo Körkkö, Outi Kuismin, Martha Feucht, Callum Wilson, Jana Behunova, Eleina England, Mitja I. Kurki, Aarno Palotie, Mikko Hallman, Riitta Kaarteenaho, Franco Laccone, Kaan Boztug, Reetta Hinttala, Johanna Uusimaa
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Neuroscience
Subjects:
NHLRC2
whole exome sequencing
FINCA disease
neurodevelopmental disorder
macrocytic anemia
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2023.1123327/full

Internet

https://www.frontiersin.org/articles/10.3389/fnins.2023.1123327/full

Similar Items