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. 2026 Jan 23.
doi: 10.1007/s12098-025-05981-1. Online ahead of print.

Transient Infantile Liver Failure due to TRMU Deficiency: The Role of Rapid Exome Sequencing

Muhammed Shabeer P  1 , Sunita Bijarnia-Mahay  2 , Jaswinder Kaur  3 , Nishant Wadhwa  4
Affiliations

Transient Infantile Liver Failure due to TRMU Deficiency: The Role of Rapid Exome Sequencing

Muhammed Shabeer P et al. Indian J Pediatr. .
No abstract available

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Conflict of interest statement

Declarations. Consent for Publication: Written informed consent for publication of the clinical details and/or clinical images was obtained from the father of the patient. A copy of the consent form is available for review by the Editor of this journal. Conflict of Interest: None.

References

    1. Vogel GF, Mozer-Glassberg Y, Landau YE, et al. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2023;25:100314. - DOI - PubMed
    1. Zeharia A, Shaag A, Pappo O, et al. Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet. 2009;85:401–7. - DOI - PubMed - PMC
    1. Bhatia S, Pal S, Kulshrestha S, et al. Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder. Eur J Hum Genet. 2024;32:1106–15. - DOI - PubMed - PMC
    1. Kingsmore SF, Nofsinger R, Ellsworth K. Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review. NPJ Genom Med. 2024;9:17. - DOI - PubMed - PMC

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