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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...
Autores principales: | Urbik, Veronica M., Schmiedel, Marilyn, Soderholm, Haille, Bonkowsky, Joshua L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7359642/ https://www.ncbi.nlm.nih.gov/pubmed/32704519 http://dx.doi.org/10.1177/2329048X20939003 |
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