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

• Автори: Giovanni Corsello (Автор), Vincenzo Antona (Автор), Gregorio Serra (Автор), Federico Zara (Автор), Clara Giambrone (Автор), Luca Lagalla (Автор), Maria Piccione (Автор), Ettore Piro (Автор)
• Формат: Книга
• Опубліковано: BMC, 2018-04-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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 (...