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: Weiqi Kong,
Xueyan Wang,
Jing Zhao,
Min Kang,
Na Xi,
Shengmei Li Tags: ORIGINAL ARTICLE Source Type: research