Mesh term Camurati-Engelmann Syndrome
Browse to parent terms:Genetic Diseases, Inborn
Osteochondrodysplasias
Description
An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.Search for this term in our Faculty Database
View this term at the NCBI website