Home - Genetic Disorders of the Skeleton


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Jul 11, 2017
Category: General
Posted by: admin
The 11th Introductory Course on Skeletal Dysplasia was held at the Hotel Aquatis in Lausanne on July 3 to 7, 2017.
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. 

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