Genotype-Phenotype Correlation Study in 529 Patients with Multiple Hereditary Exostoses: Identification of “Protective” and “Risk” Factors

Abstract

The identified "protective" and "risk" factors, as well as the proposed classification system, represent helpful tools for clinical management and follow-up of patients with multiple hereditary exostoses; moreover, homogeneous cohorts of patients, useful for studies on the pathogenesis of multiple hereditary exostoses, have been identified.