TY - JOUR AU - Liu, Shuaimei AU - Zhang, Mingchao AU - Ni, Mengxia AU - Zhu, Peiran AU - Xia, Xinyi PY - 2017 DA - 2017/12/28 TI - A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report JO - BMC Pediatrics SP - 217 VL - 17 IS - 1 AB - Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. SN - 1471-2431 UR - https://doi.org/10.1186/s12887-017-0968-8 DO - 10.1186/s12887-017-0968-8 ID - Liu2017 ER -