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

• Main Authors: Camila Simoes (Author), Martín Graña (Author), Soledad Rodriguez (Author), Federico Baltar Yanes (Author), Alejandra Tapié (Author), Nicolás Dell'Oca (Author), Hugo Naya (Author), Víctor Raggio (Author), Lucía Spangenberg (Author)
• Format: Book
• Published: BMC, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: 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...