Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10;41(5):577-580. doi: 10.3760/cma.j.cn511374-20230426-00244. ABSTRACT OBJECTIVE: To explore the clinical features and genetic etiology of a …