• If you are citizen of an European Union member nation, you may not use this service unless you are at least 16 years old.

  • You already know Dokkio is an AI-powered assistant to organize & manage your digital files & messages. Very soon, Dokkio will support Outlook as well as One Drive. Check it out today!


Krucina What causes Thanatophoric Dysplasia 2

Page history last edited by Reilley Potter 13 years, 8 months ago

Mutations in the FGFR3 gene cause thanatophoric dysplasia.

Both types of thanatophoric dysplasia result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth that are characteristic of thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.[1]


  1. http://ghr.nlm.nih.gov/condition=thanatophoricdysplasia

Comments (0)

You don't have permission to comment on this page.