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

A variant in the POLG 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 POLG-related disorders. We reported a 4-month-o...

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Detalles Bibliográficos
Autores principales: Sriwattanapong, Kanokwan, Rojnueangnit, Kitiwan, Theerapanon, Thanakorn, Srichomthong, Chalurmpon, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930966/
https://www.ncbi.nlm.nih.gov/pubmed/33562887
http://dx.doi.org/10.3390/ijns7010009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930966/
https://www.ncbi.nlm.nih.gov/pubmed/33562887
http://dx.doi.org/10.3390/ijns7010009

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