Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133044 | PMC |
| http://dx.doi.org/10.15844/pedneurbriefs-30-12-1 | DOI Listing |
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View Article and Find Full Text PDF[Intracranial mesenchymal tumors with FET::CREB fusion: a clinicopathological analysis of six cases].
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