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Updated: Apr 11, 2026

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Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Mariana Gutierrez1, Isabelle Thiffault2,3, Kether Guerrero4

  • 1Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montréal, QC, H4A 3J1, Canada. mariana.gutierrez@mail.mcgill.ca.

Orphanet Journal of Rare Diseases
|June 6, 2015
PubMed

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