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A monoallelic UXS1 variant associated with short-limbed short stature.
Rustad CF, Backe PH, Jin C, Merckoll E, Tveten K, Maciej-Hulme ML, Karlsson N, Prescott T, Sand ES, Woldseth B, Elgstøen KBP, Holla ØL. Rustad CF, et al. Mol Genet Genomic Med. 2024 Jun;12(6):e2472. doi: 10.1002/mgg3.2472. Mol Genet Genomic Med. 2024. PMID: 38860481 Free PMC article.