The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Title
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
Authors
Keywords
Intellectual Disability, Silk Fibroin, Dermatan Sulfate, Linker Chain, Homozygous Missense Mutation
Journal
HUMAN GENETICS
Volume 133, Issue 1, Pages 29-39
Publisher
Springer Nature
Online
2013-08-27
DOI
10.1007/s00439-013-1351-y

Ask authors/readers for more resources

Reprint

Contact the author

Find Funding. Review Successful Grants.

Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.

Explore

Create your own webinar

Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.

Create Now