Article
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.
Human mutation - 1 Oct 2022
Stella Alessandro, Lastella Patrizia, Viggiano Luigi, Bagnulo Rosanna, Resta Nicoletta
Abstract excerpt
Neurofibromatosis type 1 (NF1) belongs to RASopathies, a group of syndromes caused by germline mutations in Ras/MAPK pathway genes. Most NF1 patients exhibit single inactivating pathogenic variants within the NF1 gene. We performed extensive genetic analyses in two NF1 families disclosing the first two cases of double de novo monoallelic NF1 variants. Both index patients described in this study had classical NF1....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.