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Feb 15, 2017
Category: General
Posted by: asuperti

Skeletal dysplasia, severe immune deficiency (presenting in the newborn as Omenn syndrome), and developmental delay: this newly recognized condition is caused by mutations in EXTL3, an enzyme responsible for the synthesis of heparan sulfate. 

Jul 12, 2016
Category: General
Posted by: admin
The 10th Skeletal Dysplasia Course was successfully completed.
Jul 1, 2016
Category: General
Posted by: admin
Genetic ablation of the soluble frizzled-related protein 4, sFRP4, is the genetic basis of Pyle disease.


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