Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of <i>POLG</i> c.3286C>T Variant

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of <i>POLG</i> c.3286C>T Variant

A variant in the <i>POLG</i> gene is the leading cause of a heterogeneous group of mitochondrial disorders. No definitive treatment is currently available. Prenatal and newborn screening have the potential to improve clinical outcome of patients affected with <i>POLG</i>-rela...

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Bibliographic Details
Main Authors: Kanokwan Sriwattanapong, Kitiwan Rojnueangnit, Thanakorn Theerapanon, Chalurmpon Srichomthong, Thantrira Porntaveetus, Vorasuk Shotelersuk
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:International Journal of Neonatal Screening
Subjects:
failure to thrive
hepatopathy
liver
mitochondria
polymerase
metabolic disorder
Online Access:https://www.mdpi.com/2409-515X/7/1/9

Internet

https://www.mdpi.com/2409-515X/7/1/9

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