TY - JOUR AU - Corsello, Giovanni AU - Antona, Vincenzo AU - Serra, Gregorio AU - Zara, Federico AU - Giambrone, Clara AU - Lagalla, Luca AU - Piccione, Maria AU - Piro, Ettore PY - 2018 DA - 2018/04/04 TI - Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 JO - Italian Journal of Pediatrics SP - 45 VL - 44 IS - 1 AB - 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 of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features. SN - 1824-7288 UR - https://doi.org/10.1186/s13052-018-0483-z DO - 10.1186/s13052-018-0483-z ID - Corsello2018 ER -