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A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α‐ or β‐tubulin or a spectrum of proteins involved in the...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118204/ https://www.ncbi.nlm.nih.gov/pubmed/27896282 http://dx.doi.org/10.1002/mgg3.236 |