Contribution of mitochondrial DNA heteroplasmy to the phenotypic variability in maternally transmitted 22q11.2 deletion syndrome
Boris Rebolledo‐Jaramillo, María Gabriela Obregón, Victoria Huckstadt, Abel Gomez, Gabriela M. Repetto
This study investigates how mitochondrial DNA heteroplasmy contributes to phenotypic variability in maternally transmitted 22q11.2 deletion syndrome, finding significant variation in palatal phenotype but not cardiac phenotype.
Genes · Jan 13, 2021Peer-reviewedGenetic & Genomic Medicine