TY - JOUR AU - Bu, Haisong AU - Sun, Guowen AU - Zhu, Yun AU - Yang, Yifeng AU - Tan, Zhiping AU - Zhao, Tianli AU - Hu, Shijun PY - 2021 DA - 2021/01/06 TI - The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect JO - BMC Cardiovascular Disorders SP - 12 VL - 21 IS - 1 AB - Although most cases of atrial septal defect (ASD) are sporadic, familial cases have been reported, which may be caused by mutation of transcription factor GATA binding protein 4 (GATA4). Herein we combined whole-exome sequencing and bioinformatics strategies to identify a novel mutation in GATA4 accounting for the etiology in a Chinese family with ASD. SN - 1471-2261 UR - https://doi.org/10.1186/s12872-020-01822-5 DO - 10.1186/s12872-020-01822-5 ID - Bu2021 ER -