Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Stefanie PerrierLaurence GauquelinCatherine Fallet-BiancoMegan K DishopMackenzie A Michell-RobinsonLuan T TranKether GuerreroLama DarbelliMyriam SrourKevin PetreccaDeborah L RenaudMichael SaitoSeth CohenSteffen LeizBader AlhaddadTobias B HaackIngrid Tejera-MartinFernando I MontonNorberto Rodriguez-EspinosaDaniela PohlSavithri NageswaranAnnette GrefeEmma GlamuzinaGeneviève BernardPublished in: Neurology. Genetics (2020)
We describe genotype-phenotype correlations at the extreme end of severity of the POLR3-related leukodystrophy spectrum and shed light on the complex disease pathophysiology.
Keyphrases