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...

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Detalles Bibliográficos
Autores principales: de Wit, M. C. Y., de Coo, I. F. M., Halley, D. J. J., Lequin, M. H., Mancini, G. M. S.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758209/
https://www.ncbi.nlm.nih.gov/pubmed/19384555
http://dx.doi.org/10.1007/s10048-009-0192-2

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