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

• Principais autores: Camila Simoes (Autor), Martín Graña (Autor), Soledad Rodriguez (Autor), Federico Baltar Yanes (Autor), Alejandra Tapié (Autor), Nicolás Dell'Oca (Autor), Hugo Naya (Autor), Víctor Raggio (Autor), Lucía Spangenberg (Autor)
• Formato: Livro
• Publicado em: BMC, 2022-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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 wh...