FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1899
Abstract: By 2021, 10 cases of fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM #618278) syndrome have been reported, and five causative variants in the NHLRC2 gene (*618277) have been identified. First reported patients presented with recurrent… read more here.
Keywords: finca syndrome; defining neurobehavioral; phenotype survivors; syndrome defining ... See more keywords
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-0776-0
Abstract: Two variants in the ubiquitously expressed NHLRC2 gene have been reported to cause a lethal fibrotic cerebropulmonary disease termed fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome in three Finnish children. Our objective was to determine… read more here.
Keywords: heterozygous variants; nhlrc2 patient; variants nhlrc2; novel compound ... See more keywords