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 s...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2022-08-01
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| coleção: | Frontiers in Genetics |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fgene.2022.895247/full |
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