Article
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Genes - 23 Jun 2022
Napolitano Filomena, Dell'Aquila Milena, Terracciano Chiara, Franzese Giuseppina, Gentile Maria Teresa, Piluso Giulio, Santoro Claudia, Colavito Davide, Patanè Anna, De Blasiis Paolo, Sampaolo Simone, Paladino Simona, Melone Mariarosa Anna Beatrice
Abstract excerpt
Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations have been discerned in NF1, due to a highly variable clinical presentation. We aimed to study the molecular spectrum of NF1 and genotype-phenotype correlations in a monocentric study cohort of 85 NF1 patients (20 relatives, 65 sporadic cases)....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.