Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report.

Han-Shi Zeng,Zhan-Hui Zhang, Yan Hu,Gui-Lang Zheng, Jing Wang,Jing-Wen Zhang,Yu-Xiong Guo

World journal of clinical cases（2022）

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摘要

We report a unique case of ALGS associated with TAPVC and severe xanthomas. This study has enriched the clinical manifestations of ALGS and emphasized the association between gene and TAPVC.

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关键词

Alagille syndrome,Case report,JAG1 gene,Notch signaling pathway,Severe xanthomas,Total anomalous pulmonary venous connection

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