Article
Non-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: ZFYVE19mutation.
The Turkish journal of pediatrics - 7 Oct 2024
Özkeçeci Coşkun Fırat, Arslan Melike, Başaran Edibe Gözde, Ergen Yasin Maruf, Bozdoğan Önder, Balamtekin Necati
Abstract excerpt
BACKGROUND: ZFYVE19 mutation has been recently identified as one of the non-syndromic causes of cholestasis. It is associated with elevated gamma-glutamyl transferase levels and is likely a cause of neonatal-onset and intrahepatic cholestasis. CASE: Here, we report a rare case of ZFYVE19 defect, confirmed by whole exome sequencing (WES). Our patient, who is currently 4 years old, presented to us at the age of 2...
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