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. Among authors: karlsson n.
Mol Genet Genomic Med. 2024 Jun;12(6):e2472. doi: 10.1002/mgg3.2472.
Mol Genet Genomic Med. 2024.
PMID: 38860481
Free PMC article.