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Doublecortin Mutation in an Adolescent Male
Doublecortin (DCX) mutations cause abnormal development of the DCX protein that normally aids in neuronal migration during fetal development. These mutations lead to lissencephaly, or the appearance of a “smooth brain,” which is varying levels of pachygyria or agyria in severe cases. Many genetic va...
Autores principales: | Zare, Isabelle, Paul, Dustin, Moody, Shade |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591519/ https://www.ncbi.nlm.nih.gov/pubmed/31259193 http://dx.doi.org/10.1177/2329048X19836589 |
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