Alexandru Daniel Jurcă

Clinical Phenotypic Spectrum and Multisystem Burden in Neurofibromatosis Type 1: A Retrospective Regional Cohort Study

Background: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder characterized by marked phenotypic heterogeneity. This study aimed to describe the clinical spectrum and multisystem burden of NF1 in a regional retrospective cohort. Methods: We retrospectively analyzed...