SLC10A7 mRNA was more specifically expressed in tissues affected in patients, i.e., cartilage giving rise to long bones and long-bone growth plates (skeletal dysplasia), emerging teeth (amelogenesis imperfecta), lungs and developing heart (congenital heart defect in one patient), strengthening the implication of SLC10A7 deficiency in the occurrence of those clinical features. The gene discussed is SLC10A7; the disease is skeletal dysplasia.