Alagille Syndrome gene panel
收藏NIAID Data Ecosystem2026-03-14 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP399894
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资源简介：
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.
创建时间：
2023-01-01
