Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent <i>NF1</i> Gene Variants and Correlations with Neurocognitive Phenotype

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent <i>NF1</i> Gene Variants and Correlations with Neurocognitive Phenotype

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the <i>NF1</i>. To date, few genotype-phenotype correlations have been discerned in NF1, due to a highly variable clinical presentation. We aimed to study the molecular...

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Bibliographic Details
Main Authors: Filomena Napolitano, Milena Dell’Aquila, Chiara Terracciano, Giuseppina Franzese, Maria Teresa Gentile, Giulio Piluso, Claudia Santoro, Davide Colavito, Anna Patanè, Paolo De Blasiis, Simone Sampaolo, Simona Paladino, Mariarosa Anna Beatrice Melone
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Genes
Subjects:
Neurofibromatosis type 1
monocentric study cohort
internal phenotypic categorization
<i>NF1</i> mutational spectrum
novel and recurrent <i>NF1</i> mutations
genotype-phenotype correlations
Online Access:https://www.mdpi.com/2073-4425/13/7/1130

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https://www.mdpi.com/2073-4425/13/7/1130

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