Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia
SLC13A1双等位基因功能缺失变异会导致硫酸盐转运受损和骨骼表型异常,包括身材矮小、脊柱侧弯和骨骼发育不良。
期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2024.101958
Tise, Christina G; Ashton, Katie; de Hayr, Lachlan; Lee, Kun-Di; Patkar, Omkar L; Krzesinski, Emma; Bassetti, Jennifer A; Carter, Erin M; Raggio, Cathleen; Zankl, Andreas; Khanshour, Anas M; Atala, Kristhen N; Rios, Jonathan J; Wise, Carol A; Zhu, Ying; Zhang, Futao; Roscioli, Tony; Buckley, Michael; Harvey, Robert J; Dawson, Paul A