Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene

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...

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Detalles Bibliográficos
Autores principales: Stella, Alessandro, Lastella, Patrizia, Viggiano, Luigi, Bagnulo, Rosanna, Resta, Nicoletta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540858/
https://www.ncbi.nlm.nih.gov/pubmed/35723633
http://dx.doi.org/10.1002/humu.24423

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540858/
https://www.ncbi.nlm.nih.gov/pubmed/35723633
http://dx.doi.org/10.1002/humu.24423

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