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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ramos, EI, Bien-Willner, GA, Li, J, Hughes, AEO, Giacalone, J, Chasnoff, S, Kulkarni, S, Parmacek, M, Cole, FS, Druley, TE
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2014
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3929543/
https://ncbi.nlm.nih.gov/pubmed/23692340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12197
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados