Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had the same de novo mutation in TUBB4A, which encodes t...

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Publicado en:Brain
Autores principales: Hamilton, Eline M., Polder, Emiel, Vanderver, Adeline, Naidu, Sakkubai, Schiffmann, Raphael, Fisher, Kate, Raguž, Ana Boban, Blumkin, Luba, van Berkel, Carola G. M., Waisfisz, Quinten, Simons, Cas, Taft, Ryan J., Abbink, Truus E. M., Wolf, Nicole I., van der Knaap, Marjo S.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2014
Materias:
Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4345790/
https://ncbi.nlm.nih.gov/pubmed/24785942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu110
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