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Article

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

12 May 2020

Abstract excerpt

Objective To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes. Methods We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely severe...

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PMID: 32582862
DOI: 10.1212/nxg.0000000000000425

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