A new frameshift mutation in L1CAM producing X ‐linked hydrocephalus

ConclusionWe identified a novel disease ‐causing mutation inL1CAM for the first time, which further confirmedL1CAM as a gene underlying XLH cases.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
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