Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature

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...

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Bibliographic Details
Main Authors:	Zailong Qin, Qi Yang, Shang Yi, Limei Huang, Yiping Shen, Jingsi Luo
Format:	Article
Language:	English
Published:	Wiley 2020-12-01
Series:	Molecular Genetics & Genomic Medicine
Subjects:	hyperlactatemia hypoglycemia liver failure TRMU whole‐exome sequencing
Online Access:	https://doi.org/10.1002/mgg3.1515

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