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

Cecilie F Rustad Paul Hoff Backe Chunsheng JinElse MerckollKristian TvetenMarissa Lucy Maciej-HulmeNiclas KarlssonTrine PrescottElise Sandås SandBerit WoldsethKatja Benedikte Prestø ElgstøenØystein L Holla

Published in: Molecular genetics & genomic medicine (2024)

This is the first report linking UXS1 to short-limbed short stature in humans.

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