A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects.More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017).Whole-exome sequencing was performed in TUMERIC CINNAMON a consanguineous family.The affe