Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature
Abstract Background Liver failure caused by TRMU is a rare hereditary disorder and clinically manifests into metabolic acidosis, hyperlactatemia, and hypoglycemia. Limited spectrum of TRMU pathogenic variants has been reported. Methods Whole‐exome sequencing was employed for the diagnosis of a 5‐day...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-12-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1515 |