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

• Main Authors: Giovanni Corsello (Author), Vincenzo Antona (Author), Gregorio Serra (Author), Federico Zara (Author), Clara Giambrone (Author), Luca Lagalla (Author), Maria Piccione (Author), Ettore Piro (Author)
• Format: Book
• Published: BMC, 2018-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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 (...