Transcript selection for the genetic diagnosis of KIF12-associated progressive familial intrahepatic cholestasis  

作　　者：Ye Cheng Yi-Qiong Zhang Bing-Xuan Wei Lian Chen Qing-He Xing Jian-She Wang 

机构地区：[1]Children’s Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University,Shanghai,P.R.China [2]Shanghai Center for Women and Children’s Health,Shanghai,P.R.China [3]The Center for Pediatric Liver Diseases,Children’s Hospital of Fudan University,Shanghai,P.R.China [4]Department of Pathology,Children’s Hospital of Fudan University,Shanghai,China [5]Shanghai Key Laboratory of Birth Defects,Shanghai,P.R.China

出　　处：《Gastroenterology Report》2024年第1期787-789,共3页胃肠病学报道(英文)

基　　金：supported by the National Key Research and Development Program from the Ministry of Science and Technology of the People’s Republic of China[2021YFC2700800];the Shanghai Municipal Commission of Science and Technology Research Project[19JC1411002].

摘　　要：Introduction Cholestatic jaundice in infancy occurs in-1 in 2,500 term infants and 25%of cases are genetically determined[1].An accurate diagnosis is crucial for clinicians to provide timely and personalized management.Despite the increasing application of whole-exome sequencing(WES),the genetic diagnosis of some patients remains unclear.

关 键 词：DIAGNOSIS FAMILIAL CASES 

分 类 号：R73[医药卫生—肿瘤]