Non-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: <i>ZFYVE19 </i>mutation
We have identified the ZFYVE19 mutation as a variant that is not accompanied by any other symptoms. However, we have limited knowledge about the progression of the disease and are closely monitoring the patient for potential liver-related issues. Using WES in cases of undiagnosed liver enzyme elevations or cholestasis can help identify new genes and improve our understanding of the underlying pathophysiology.
Authors
- Yasin Maruf Ergen (ORCID: https://orcid.org/0000-0002-3689-6852)
- Edibe Gözde Başaran (ORCID: https://orcid.org/0000-0003-3165-3234)
- Necati Balamtekın (ORCID: https://orcid.org/0000-0001-8665-5611)
- Önder Bozdoğan (ORCID: https://orcid.org/0000-0002-2917-6646)
- Coşkun Fırat Özkeçeci (ORCID: https://orcid.org/0000-0002-3954-6428)
- Melike Arslan (ORCID: https://orcid.org/0000-0002-0107-4699)
Institutions
- Gülhane Askerî Tıp Akademisi (TR)
Publication Details
- Journal
- The Turkish Journal of Pediatrics
- Published
- 2024-10-07
- DOI
- https://doi.org/10.24953/turkjpediatr.2024.4655
- Primary Topic
- Drug Transport and Resistance Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00