Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Zhang W, Yao Z, Guo R, Cao J, Li W, Hao C, Zhang X. Orphanet J Rare Dis. 2023 Nov 30; 18(1):371. Epub 2023 Nov 30.