TY - JOUR AU - Yang, Linfeng AU - Guo, Bin AU - Zhu, Weiwei AU - Wang, Lei AU - Han, Bingjuan AU - Che, Yena AU - Guo, Lingfei PY - 2020 DA - 2020/06/09 TI - Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report JO - BMC Pediatrics SP - 287 VL - 20 IS - 1 AB - Bainbridge–Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in China and are limited to the analysis of its clinical abnormalities, medical imaging features and gene variation. The aim of this study was to investigate the clinical phenotype, imaging manifestations and genetic characteristics of BPRS syndrome caused by ASXL3 gene mutation. Clinical data, medical imaging data and gene test results of BRPS in infant patients were retrospectively analyzed, and related literature was summarized. SN - 1471-2431 UR - https://doi.org/10.1186/s12887-020-02027-7 DO - 10.1186/s12887-020-02027-7 ID - Yang2020 ER -