Article
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
Clinical genetics - 1 Nov 2021
D'Amico Alessandra, Rosano Carmen, Pannone Luca, Pinna Valentina, Assunto Antonia, Motta Marialetizia, Ugga Lorenzo, Daniele Paola, Mandile Roberta, Mariniello Lucio, Siano Maria Anna, Santoro Claudia, Piluso Giulio, Martinelli Simone, Strisciuglio Pietro, De Luca Alessandro, Tartaglia Marco, Melis Daniela
Abstract excerpt
Neurofibromatosis 1 (NF1) is a disorder characterized by variable expressivity caused by loss-of-function variants in NF1, encoding neurofibromin, a protein negatively controlling RAS signaling. We evaluated whether concurrent variation in proteins functionally linked to neurofibromin contribute to the variable expressivity of NF1. Parallel sequencing of a RASopathy gene panel in 138 individuals with molecularly...
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