Laughing child leaning back on woman's knee

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

Akesson, L.S., Eggers, S., Love, C.J., Chong, B., Krzesinski, E.I., Brown, N.J., et al. (2019). Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing. European Journal of Human Genetics.