SLC10A7 and skeletal dysplasia: While Ashikov et al. (2018) identified SLC10A7 mutant patients from a cohort of patients with abnormal Golgi glycosylation16, in the studies of Dubail et al. (2018) and Laugel-Haushalter et al. (2019), patients clinically presented with skeletal dysplasia and amelogenesis imperfecta17,18.