Article
[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].
Nederlands tijdschrift voor geneeskunde - 2 Jun 2001
van Ravenswaaij-Arts C M, Losekoot M
Abstract excerpt
Achondroplasia, the most common and best known skeletal dysplasia, is inherited in an autosomal dominant fashion. Like a number of other skeletal dysplasias, among which hypochondroplasia and thanatophoric dysplasia, achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. FGFR3 is a negative regulator of bone growth. Binding of fibroblast growth factors to the FGFR3 receptor...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.