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Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies

BACKGROUND: The genes responsible for genetic white matter disorders (GWMD; leukodystrophies and leukoencephalopathies) are incompletely known. Our goal was to revise the list of genes considered to cause GWMD. We considered a GWMD to consist of any genetic disease causing T2 signal white matter cha...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Child Neurol Open
Prif Awduron: Urbik, Veronica M., Schmiedel, Marilyn, Soderholm, Haille, Bonkowsky, Joshua L.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: SAGE Publications 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7359642/
https://ncbi.nlm.nih.gov/pubmed/32704519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X20939003
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