Simultaneous Detection of <i>NF1</i>, <i>SPRED1</i>, <i>LZTR1</i>, and <i>NF2</i> Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients

Simultaneous Detection of <i>NF1</i>, <i>SPRED1</i>, <i>LZTR1</i>, and <i>NF2</i> Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients

Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including <i>NF1</i>, <i>NF2</i>, <i>SPRED1</i>, <i>SM...

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Bibliographic Details
Main Authors: Donatella Bianchessi, Maria Cristina Ibba, Veronica Saletti, Stefania Blasa, Tiziana Langella, Rosina Paterra, Giulia Anna Cagnoli, Giulia Melloni, Giulietta Scuvera, Federica Natacci, Claudia Cesaretti, Gaetano Finocchiaro, Marica Eoli
Format: Article
Language:English
Published: MDPI AG 2020-06-01
Series:Genes
Subjects:
neurofibromatosis type 1
targeted next generation sequencing (NGS)
<i>NF1</i>, <i>SPRED1</i>, <i>LZTR1</i>, <i>NF2</i> genes pathogenic variants
schwannomatosis
Online Access:https://www.mdpi.com/2073-4425/11/6/671

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