Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 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 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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316015/
https://www.ncbi.nlm.nih.gov/pubmed/35885913
http://dx.doi.org/10.3390/genes13071130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316015/
https://www.ncbi.nlm.nih.gov/pubmed/35885913
http://dx.doi.org/10.3390/genes13071130

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