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POLR3-related leukodystrophy

MedGen UID:
851991
Concept ID:
CN234589
Disease or Syndrome

Professional guidelines

PubMed

Coulombe B, Chapleau A, Macintosh J, Durcan TM, Poitras C, Moursli YA, Faubert D, Pinard M, Bernard G
Biomolecules 2024 Jul 17;14(7) doi: 10.3390/biom14070857. PMID: 39062571Free PMC Article

Recent clinical studies

Prognosis

Perrier S, Gauquelin L, Bernard G
Handb Clin Neurol 2024;204:197-223. doi: 10.1016/B978-0-323-99209-1.00014-4. PMID: 39322379
Hiraide T, Nakashima M, Ikeda T, Tanaka D, Osaka H, Saitsu H
J Hum Genet 2020 Oct;65(10):921-925. Epub 2020 Jun 1 doi: 10.1038/s10038-020-0786-y. PMID: 32483275

Clinical prediction guides

Yang H, Wu Z, Li X, Huang Y, Li J, He F, Feng L, Xiao B, Tang W
Neurol Sci 2023 Sep;44(9):3363-3368. Epub 2023 Mar 29 doi: 10.1007/s10072-023-06767-z. PMID: 36988728
Hiraide T, Nakashima M, Ikeda T, Tanaka D, Osaka H, Saitsu H
J Hum Genet 2020 Oct;65(10):921-925. Epub 2020 Jun 1 doi: 10.1038/s10038-020-0786-y. PMID: 32483275
Hiraide T, Kubota K, Kono Y, Watanabe S, Matsubayashi T, Nakashima M, Kaname T, Fukao T, Shimozawa N, Ogata T, Saitsu H
Brain Dev 2020 Apr;42(4):363-368. Epub 2020 Jan 10 doi: 10.1016/j.braindev.2019.12.012. PMID: 31932101
Wu S, Bai Z, Dong X, Yang D, Chen H, Hua J, Zhou L, Lv H
BMC Pediatr 2019 Aug 22;19(1):289. doi: 10.1186/s12887-019-1656-7. PMID: 31438894Free PMC Article

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