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...

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Detalles Bibliográficos
Autores principales: Tian, Guoling, Cristancho, Ana G., Dubbs, Holly A., Liu, Grant T., Cowan, Nicholas J., Goldberg, Ethan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
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

Internet

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

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