A monoallelic UXS1 variant associated with short‐limbed short stature.

Autor: Rustad, Cecilie F.1 (AUTHOR), Backe, Paul Hoff2,3 (AUTHOR), Jin, Chunsheng4 (AUTHOR), Merckoll, Else5 (AUTHOR), Tveten, Kristian6 (AUTHOR), Maciej‐Hulme, Marissa Lucy7 (AUTHOR), Karlsson, Niclas7,8 (AUTHOR), Prescott, Trine6 (AUTHOR), Sand, Elise Sandås9 (AUTHOR), Woldseth, Berit9 (AUTHOR), Elgstøen, Katja Benedikte Prestø9 (AUTHOR), Holla, Øystein L.6 (AUTHOR) oholla@sthf.no
Zdroj: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-14. 14p.
Databáze: Academic Search Ultimate
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