Alagille syndrome


Do people with Alagille syndrome due to JAG1 mutations have different symptoms than people with NOTCH2 mutations?

Currently, it appears that there is no difference in symptoms of people with JAG1 mutations compared to NOTCH2 mutations. However, the number of people reported with Alagille syndrome due to NOTCH2 mutations is very small, so it is hard to determine if there is a difference between NOTCH2 and JAG1 mutations in Alagille syndrome.

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