Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly

The genetic mechanisms driving normal brain development remain largely unknown. We performed genomic and immunohistochemical characterization of a novel, fatal human phenotype including extreme microcephaly with cerebral growth arrest at 14–18 weeks gestation in three full sisters born to healthy, n...

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Detalles Bibliográficos
Autores principales: Ramos, EI, Bien-Willner, GA, Li, J, Hughes, AEO, Giacalone, J, Chasnoff, S, Kulkarni, S, Parmacek, M, Cole, FS, Druley, TE
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929543/
https://www.ncbi.nlm.nih.gov/pubmed/23692340
http://dx.doi.org/10.1111/cge.12197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929543/
https://www.ncbi.nlm.nih.gov/pubmed/23692340
http://dx.doi.org/10.1111/cge.12197

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