Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
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Author / Creator
Tallgren, Antti , Kager, Leo , O'Grady, Gina , Tuominen, Hannu , Körkkö, Jarmo , Kuismin, Outi , Feucht, Martha , Wilson, Callum , Behunova, Jana , England, Eleina , Kurki, Mitja I , Palotie, Aarno , Hallman, Mikko , Kaarteenaho, Riitta , Laccone, Franco , Boztug, Kaan , Hinttala, Reetta and Uusimaa, Johanna
Publisher
Switzerland: Frontiers Media S.A
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Language
English
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Publisher
Switzerland: Frontiers Media S.A
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Scope and Contents
Contents
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 by recessive variants in the highly conserved
gene. Our previous studies have shown...
Alternative Titles
Full title
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
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TN_cdi_doaj_primary_oai_doaj_org_article_a15fd5005cc54d2da58d74123763ff5c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a15fd5005cc54d2da58d74123763ff5c
Other Identifiers
ISSN
1662-4548,1662-453X
E-ISSN
1662-453X
DOI
10.3389/fnins.2023.1123327
