Clinical, laboratory, radiological, and genetic characteristics of pediatric patients with Alagille syndrome
Background: Alagille syndrome (ALGS) is an autosomal dominant disease caused by JAG1 or NOTCH2 mutation. It is diagnosed by the presence of three out of five features: characteristic facies, posterior embryotoxon, peripheral pulmonary stenosis, vertebral defects, and interlobular bile duct paucity....
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-01-01
|
| Series: | Advanced Biomedical Research |
| Subjects: | |
| Online Access: | http://www.advbiores.net/article.asp?issn=2277-9175;year=2023;volume=12;issue=1;spage=155;epage=155;aulast=Isa |