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Article

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

Genes - 19 Jun 2020

Bianchessi Donatella, Ibba Maria Cristina, Saletti Veronica, Blasa Stefania, Langella Tiziana, Paterra Rosina, Cagnoli Giulia Anna, Melloni Giulia, Scuvera Giulietta, Natacci Federica, Cesaretti Claudia, Finocchiaro Gaetano, Eoli Marica

Abstract excerpt

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 NF1, NF2, SPRED1, SMARCB1, and LZTR1 genes on Ion Torrent. Together with NGS, the Multiplex Ligation-Dependent Probe Amplification Analysis (MLPA) method was performed to rule out large...

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Identifiers

PMID: 32575496
DOI: 10.3390/genes11060671
PMCID: PMC7349720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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