Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases
These PFIC cases highlight the heterogenous presentation and diagnostic challenges, and they emphasize the role of next-generation sequencing, particularly the utility of WES.
Authors
- Nafis Shafizadeh
- Dhanpat Jain (ORCID: https://orcid.org/0000-0003-3845-0798)
- Jingjing Jiao (ORCID: https://orcid.org/0000-0003-4167-1567)
- Raffaella Morotti (ORCID: https://orcid.org/0000-0002-7863-1772)
Institutions
- Yale University (US)
- Woodland Hills Medical Center (US)
Publication Details
- Journal
- American Journal of Clinical Pathology
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1093/ajcp/aqae123
- Primary Topic
- Drug Transport and Resistance Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00