A new frameshift mutation in L1CAM producing X‐linked hydrocephalus
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DOI: 10.1002/mgg3.1031
Abstract: X‐linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM. It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in… read more here.
Keywords: linked hydrocephalus; l1cam; mutation l1cam; frameshift mutation ... See more keywords