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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Main Authors: Kanokwan Sriwattanapong (Author), Kitiwan Rojnueangnit (Author), Thanakorn Theerapanon (Author), Chalurmpon Srichomthong (Author), Thantrira Porntaveetus (Author), Vorasuk Shotelersuk (Author)
Format: Book
Published: MDPI AG, 2021-02-01T00:00:00Z.
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