Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a pleiotropic autosomal dominant disorder with marked variability of clinical expression. As in other heritable disorders, the mapping and cloning of the gene responsible for NF1 have increased our understanding of the pathogenesis of the condition. In particular, the phenotypic variability and variable expressivity can be studied using molecular techniques. In this article we...

Topics

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

• Share to Neurofibromatosis and Schwannoma Cases
• Share to Sarcoma Diagnosis and Treatment
• Share to Signaling Pathways in Disease