Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
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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