Alagille Syndrome gene panel

We report two cases, both with cholestatic jaundice as the main manifestation, in which BA was excluded and finally diagnosed as ALGS based on characteristic facial features, serological tests, imaging, laparoscopic cholangiography, pathology and genetic findings. Both cases are novel mutant genes on chromosome 20 that have not been reported in the literature.

本研究报道2例以胆汁淤积性黄疸为主要临床表现的病例。上述两例均通过特征性面容、血清学检测、影像学检查、腹腔镜胆道造影、病理检查及基因检测结果，排除胆道闭锁（Biliary Atresia，BA）后，最终确诊为阿拉基尔综合征（Alagille Syndrome，ALGS）。两例病例所携带的20号染色体上的突变基因为新型突变，目前尚未见文献报道。