Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

A 32-week premature infant presented with respiratory failure, later progressing to pulmonary hypertension (PH), liver failure, lactic acidosis, and encephalopathy. Using exome sequencing, this patient was diagnosed with a rare Polymerase Gamma (POLG)-related mitochondrial DNA (mtDNA) depletion synd...

Descripción completa

Detalles Bibliográficos
Autores principales: Franklin, Andrew D., Chaudhari, Bimal P., Koboldt, Daniel C., Machut, Kerri Z.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238196/
https://www.ncbi.nlm.nih.gov/pubmed/34194468
http://dx.doi.org/10.3389/fgene.2021.664278

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238196/
https://www.ncbi.nlm.nih.gov/pubmed/34194468
http://dx.doi.org/10.3389/fgene.2021.664278

Ejemplares similares