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Article

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

Italian journal of pediatrics - 4 Apr 2018

Corsello Giovanni, Antona Vincenzo, Serra Gregorio, Zara Federico, Giambrone Clara, Lagalla Luca, Piccione Maria, Piro Ettore

Abstract excerpt

BACKGROUND: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern...

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Identifiers

PMID: 29618358
DOI: 10.1186/s13052-018-0483-z
PMCID: PMC5885309

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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