Identification of pathogenic mutations for a Wolfram syndrome pedigree by whole exome sequencing and analysis of its clinical characteristics
MENG Xiangyu, YAN Dandan, CHEN Xianghui, LAI Siyu, XU Yun, GENG Ruina, ZHANG Hong, ZHANG Rong, HU Cheng, YAN Jing
Journal of Shanghai Jiao Tong University (Medical Science) . 2023, (7): 898 -905 .  DOI: 10.3969/j.issn.1674-8115.2023.07.012