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Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature
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‐old fe...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7767550/ https://ncbi.nlm.nih.gov/pubmed/33205917 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1515 |
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