Article

FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy

2022-11-11

Abstract excerpt

<title>Abstract</title> <p>FINCA syndrome is an autosomal recessive inherited multisystemic disorder characterized by pulmonary fibrosis, neurodegeneration and cerebral angiomatosis. So far, 13 patients from nine families with biallelic <italic>NHLRC2</italic> variants have been published. In all of them, the recurrent missense variant p.(Asp148Tyr) was detected at least on one allele. Common manifestations compr...

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Literature Corpus work: 31968b34-f93c-5834-b44e-1830e470a493
DOI: 10.21203/rs.3.rs-2256298/v1

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