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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Udgivet i:Brain
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
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Original Articles
Online adgang: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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