Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia - 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.; et al. (Genetics in Medicine Open, 2025)
Keywords: Hyposulfatemia; Scoliosis; Short stature; Skeletal dysplasia; Sulfate transporter; Sulfate transporter; Short stature; Skeletal dysplasia; Scoliosis; Hyposulfatemia