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 (Molecular genetics & genomic medicine, 2024)