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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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Detalles Bibliográficos
Autores principales: Thomas, Aby, Thomas, Anna Kalathil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Scientific Scholar 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826334/
https://www.ncbi.nlm.nih.gov/pubmed/31768296
http://dx.doi.org/10.25259/JCIS_116_2019