Cargando...
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...
Gardado en:
| Publicado en: | Mol Genet Genomic Med |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2020
|
| Assuntos: | |
| Acceso en liña: | 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 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|