Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.

"Declarations Ethics approval and consent to participateThe study was approved by the Institutional Medical Ethics Committee of Beijing Children’s Hospital, Capital Medical University (Approval No. 2015-26). The patient and her legal guardians provided written informed consent for participation. Consent for publicationThe patient and her legal guardians provided written informed consent for publication of this study. Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

"Funding This work was partially supported by grants from National Natural Science Foundation of China (32270728) and Beijing Municipal Commission of Health and Family Planning Foundation (2022-2-1142, 2020-4-1144)."