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Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports

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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… Click to show full abstract

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.

Keywords: gene mutation; syndrome three; analysis l1cam; chinese families; l1cam gene

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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