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Article

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

American journal of human genetics - 3 Jul 2019

Cousin Margot A, Conboy Erin, Wang Jian-She, Lenz Dominic, Schwab Tanya L, Williams Monique, Abraham Roshini S, Barnett Sarah, El-Youssef Mounif, Graham Rondell P, Gutierrez Sanchez Luz Helena, Hasadsri Linda, Hoffmann Georg F, Hull Nathan C, Kopajtich Robert, Kovacs-Nagy Reka, Li Jia-Qi, Marx-Berger Daniela, McLin Valérie, McNiven Mark A, Mounajjed Taofic, Prokisch Holger, Rymen Daisy, Schulze Ryan J, Staufner Christian, Yang Ye, Clark Karl J, Lanpher Brendan C, Klee Eric W

Abstract excerpt

Pediatric acute liver failure (ALF) is life threatening with genetic, immunologic, and environmental etiologies. Approximately half of all cases remain unexplained. Recurrent ALF (RALF) in infants describes repeated episodes of severe liver injury with recovery of hepatic function between crises. We describe bi-allelic RINT1 alterations as the cause of a multisystem disorder including RALF and skeletal...

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Identifiers

PMID: 31204009
DOI: 10.1016/j.ajhg.2019.05.011
PMCID: PMC6612521

Genes

RINT1
UVRAG
NBAS

Variants

Provenance

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