Article
Neurofibromin (Nf1) is required for skeletal muscle development.
Human molecular genetics - 15 Jul 2011
Kossler Nadine, Stricker Sigmar, Rödelsperger Christian, Robinson Peter N, Kim Johnny, Dietrich Carola, Osswald Monika, Kühnisch Jirko, Stevenson David A, Braun Thomas, Mundlos Stefan, Kolanczyk Mateusz
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signaling. Besides neuroectodermal malformations and tumors, the skeletal system is often affected (e.g. scoliosis and long bone dysplasia) demonstrating the importance of neurofibromin for development and maintenance of the musculoskeletal system....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.