Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report

BACKGROUND: Lissencephaly (LIS) is a cortical malformation, characterized by smooth or nearly smooth cerebral surface and a shortage of gyral and sulcal development, which is caused by deficient neuronal migration during embryogenesis. Neuronal migration involves many gene products, among which is t...

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Detalles Bibliográficos
Autores principales: Simoes, Camila, Graña, Martín, Rodriguez, Soledad, Baltar Yanes, Federico, Tapié, Alejandra, Dell’Oca, Nicolás, Naya, Hugo, Raggio, Víctor, Spangenberg, Lucía
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9472359/
https://www.ncbi.nlm.nih.gov/pubmed/36100855
http://dx.doi.org/10.1186/s12887-022-03595-6

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