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

• Váldodahkkit: Giovanni Corsello (Dahkki), Vincenzo Antona (Dahkki), Gregorio Serra (Dahkki), Federico Zara (Dahkki), Clara Giambrone (Dahkki), Luca Lagalla (Dahkki), Maria Piccione (Dahkki), Ettore Piro (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2018-04-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract 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 (...