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Case Report: Three novel pathogenic ABCC2 mutations identified in two patients with Dubin–Johnson syndrome
Background: Dubin–Johnson syndrome (DJS) is a rare autosomal recessive genetic disease which is caused by mutations in the ABCC2 gene; it is characterized by chronic hyperbilirubinemia. Here, we report two pedigrees affected with DJS which were caused by three novel pathogenic ABCC2 mutations. Case...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452728/ https://www.ncbi.nlm.nih.gov/pubmed/36092886 http://dx.doi.org/10.3389/fgene.2022.895247 |