Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings

Abstract Background Recurrent acute liver failure (RALF) is a rare and life-threatening disorder often triggered by infections or febrile episodes. Variants in genes regulating vesicular transport, including RINT1, NBAS have been implicated in RALF and are classified as infantile liver failure syndr...

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Bibliographic Details

Published in:	Human Genomics
Main Authors:	Еkaterina Nuzhnaya, Andrey Marakhonov, Nikolai Prokhorov, Nelly Kan, Yulia Rodina, Anna Shcherbina, Polina Tsygankova, Anna Efremovа, Natalia Semenova
Format:	Article
Language:	English
Published:	BMC 2025-10-01
Subjects:	Recurrent acute liver failure RALF Infantile liver failure syndrome type 3 ILFS3 RINT1 Neutropenia
Online Access:	https://doi.org/10.1186/s40246-025-00827-5