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POLR3-related Leukodystrophy

Pol III-related leukodystrophy is a recently recognized category of leukodystrophy with characteristic clinical presentation and imaging findings. These cases are diagnosed by the combination of typical clinical presentation, brain magnetic resonance imaging findings, and the presence of biallelic p...

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Detalhes bibliográficos
Publicado no:J Clin Imaging Sci
Main Authors: Thomas, Aby, Thomas, Anna Kalathil
Formato: Artigo
Idioma:Inglês
Publicado em: Scientific Scholar 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6826334/
https://ncbi.nlm.nih.gov/pubmed/31768296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.25259/JCIS_116_2019
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