Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies
Mol Syndromol. 2024 Dec;15(6):450-463. doi: 10.1159/000539034. Epub 2024 Jun 17. ABSTRACT INTRODUCTION: Mitochondrial DNA depletion syndromes (MDDSs) are a group of clinically and genetically heterogeneous …