Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy

Perrier, S., Macintosh, J., Misiaszek, A. D., Lambert, G., Guerrero, K., Tran, L. T., Müller, C. W., Pastinen, T., Maegawa, G. H. B., Thiffault, I., & Bernard, G. (2024). Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy. Human Mutation, 2024(1). Portico. https://doi.org/10.1155/2024/8807171
Authors:
Stefanie Perrier
Julia Macintosh
Gabrielle Lambert
Kether Guerrero
Luan T. Tran
Genevieve Bernard
Agata D. Misiaszek
Christoph W. Mueller
Tomi Pastinen
Isabelle Thiffault
Gustavo H. B. Maegawa
Affiliated Authors:
Gustavo H. B. Maegawa
Columbia Affiliation:
Author Keywords:
case report
hypomyelination
pol iii
polr3k
polr3-related leukodystrophy
rna polymerase iii
rpc10
elink
Publication Type:
Article
Unique ID:
10.1155/2024/8807171
DOI:
10.1155/2024/8807171
Journal:
Human Mutation
Publication Date:
Data Source:
Web of Science
Source Link:
View Web of Science Record

Record Created: