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Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.

Mark TarnopolskyMariya KozenkoKevin C Jones
Published in: Journal of child neurology (2019)
Keyphrases
  • oxidative stress
  • gene expression
  • autism spectrum disorder
  • congenital heart disease
  • genome wide