In conclusion, our functional work-up of SLC10A7 has identified a new gene responsible for skeletal dysplasia and amelogenesis imperfecta, illustrating the complexity of GAG synthesis and the putative role of Ca2+ homoeostasis in this process, thus opening new possibilities for the development of therapeutic approaches by correcting the defective Ca2+ homoeostasis in the Golgi. This evidence concerns the gene SLC10A7 and skeletal dysplasia.