Transcript selection for the genetic diagnosis of KIF12-associated progressive familial intrahepatic cholestasis
Ye Cheng1
Yi-Qiong Zhang2
Bing-Xuan Wei3
Lian Chen4
Qing-He Xing5
Jian-She Wang6
1.Children’s Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University,Shanghai,P.R.China;Shanghai Center for Women and Children’s Health,Shanghai,P.R.China;The Center for Pediatric Liver Diseases,Children’s Hospital of Fudan University,Shanghai,P.R.China2.The Center for Pediatric Liver Diseases,Children’s Hospital of Fudan University,Shanghai,P.R.China3.Children’s Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University,Shanghai,P.R.China4.Department of Pathology,Children’s Hospital of Fudan University,Shanghai,China5.Children’s Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University,Shanghai,P.R.China;Shanghai Center for Women and Children’s Health,Shanghai,P.R.China6.The Center for Pediatric Liver Diseases,Children’s Hospital of Fudan University,Shanghai,P.R.China;Shanghai Key Laboratory of Birth Defects,Shanghai,P.R.China
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 diag-nosis 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.
机标关键词：geneticassociatedcholestasisdiagnosisfamilialintrahepaticprogressiveselection
论文发表日期：2024-08-30
在线出版日期：2026-07-17（本平台首次上网日期，不代表文献的发表时间）
页数：3( 403-405 )