Associations of clinical features in neurofibromatosis 1 (NF1).

Abstract excerpt

Neurofibromatosis 1 (NF1), an autosomal dominant disease, exhibits extreme clinical variability. This variability greatly increases the burden for affected families and impairs our ability to understand the pathogenesis of NF1. Recognition of heterogeneity within a disease may provide important pathogenic insights, therefore we tested clinical data from three large sets of NF1 patients for evidence that certain...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Family Health
• Share to Genetic Predisposition to Disease