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Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report
BACKGROUND: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene. It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems, such as the cardiovascular, skeletal, and ur...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9477039/ https://www.ncbi.nlm.nih.gov/pubmed/36157644 http://dx.doi.org/10.12998/wjcc.v10.i25.8932 |