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Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports
BACKGROUND: The molecular mutations of the L1CAM gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families with a history of hydrocephalus were reported in this study. Two of the three are novel L1CAM variants. METHODS: Results of clinical and imaging...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482388/ https://www.ncbi.nlm.nih.gov/pubmed/35791503 http://dx.doi.org/10.1002/mgg3.2002 |