[Genetic analysis of a child with Progressive familial intrahepatic cholestasis type II due to a homozygous variant of ABCB11 gene].
The homozygous variant of the ABCB11 gene may be the genetic cause of this child. Genetic testing is helpful for confirming the diagnosis and enrich the mutational spectrum of the ABCB11 gene.
Authors
- Xiaotai Huang (ORCID: https://orcid.org/0000-0002-0298-7350)
- Wenbo Zhu (ORCID: https://orcid.org/0000-0002-4991-9021)
- Zhanhao Su (ORCID: https://orcid.org/0000-0001-9989-761X)
- Zhanao Deng (ORCID: https://orcid.org/0000-0002-7338-3298)
- Cheng Zeng (ORCID: https://orcid.org/0000-0002-6809-3018)
- Yuchen Huang (ORCID: https://orcid.org/0000-0002-1537-4924)
- Huang Qiu-li (ORCID: https://orcid.org/0000-0003-4239-0249)
Institutions
- Qinzhou Maternity and Child Health Care Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-08-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20241028-00564
- Primary Topic
- Drug Transport and Resistance Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00