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Alagille syndrome: understanding the genotype-phenotype relationship and its potential therapeutic impact
Expert Review of Gastroenterology & Hepatology ( IF 3.9 ) Pub Date : 2023-09-05 , DOI: 10.1080/17474124.2023.2255518
Jennifer Halma 1 , Henry C Lin 2
Affiliation  

Alagille syndrome (ALGS) is an autosomal dominant, multisystem genetic disorder with wide phenotypic variability caused by mutations in the Notch signaling pathway, specifically from mutations in e...

中文翻译:

阿拉吉尔综合征:了解基因型-表型关系及其潜在的治疗影响

Alagille 综合征 (ALGS) 是一种常染色体显性多系统遗传性疾病,具有广泛的表型变异性,由 Notch 信号通路突变引起,特别是 e...
更新日期:2023-09-05
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