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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Detalles Bibliográficos
Autores principales: Qin, Zailong, Yang, Qi, Yi, Shang, Huang, Limei, Shen, Yiping, Luo, Jingsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767550/
https://www.ncbi.nlm.nih.gov/pubmed/33205917
http://dx.doi.org/10.1002/mgg3.1515

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767550/
https://www.ncbi.nlm.nih.gov/pubmed/33205917
http://dx.doi.org/10.1002/mgg3.1515

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