Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports
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DOI: 10.1002/mgg3.2002
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… read more here.
Keywords: gene mutation; syndrome three; analysis l1cam; chinese families ... See more keywords
L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant
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DOI: 10.1007/s43032-021-00828-4
Abstract: L1 syndrome, a complex X-linked neurological disorder, is caused by mutations in the L1 cell adhesion molecule (L1CAM) gene. L1CAM molecule is a member of immunoglobulin (Ig) superfamily of neural cell adhesion molecules (CAMs), which… read more here.
Keywords: l1cam gene; gene; missense variant;