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Movement disorder and neuronal migration disorder due to ARFGEF2 mutation
We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations (c.2031_2038dup and c.3798_3802del), changing the limited knowledge about the phenotype. T...
Tallennettuna:
| Päätekijät: | , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Springer-Verlag
2009
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2758209/ https://ncbi.nlm.nih.gov/pubmed/19384555 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-009-0192-2 |
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