Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.
Shanshan GaoXuechao ZhaoGanye ZhaoPeng DaiXiangdong KongPublished in: Molecular genetics & genomic medicine (2022)
The current study emphasizes the importance of combining family history, prenatal ultrasonography, and L1CAM mutation testing positive for the diagnosis of the L1 syndrome.