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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
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 |