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Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic
Background: Alagille syndrome (ALGS) is a highly variable multisystem disorder inherited in an autosomal dominant pattern with incomplete penetration. The disorder is caused by mutations in the JAG1 gene, only rarely in the NOTCH2 gene, which gives rise to malformations in multiple organs. Bile duct...
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| Gepubliceerd in: | Diagnostics (Basel) |
|---|---|
| Hoofdauteurs: | , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
MDPI
2021
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8230072/ https://ncbi.nlm.nih.gov/pubmed/34071626 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11060983 |
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