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

• المؤلفون الرئيسيون: Kanokwan Sriwattanapong (مؤلف), Kitiwan Rojnueangnit (مؤلف), Thanakorn Theerapanon (مؤلف), Chalurmpon Srichomthong (مؤلف), Thantrira Porntaveetus (مؤلف), Vorasuk Shotelersuk (مؤلف)
• التنسيق: كتاب
• منشور في: MDPI AG, 2021-02-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

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...