A new frameshift mutation in L1CAM producing X‐linked hydrocephalus

摘要

X‐linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of . It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in the development of the nervous system. The objective of the study was to report a new disease‐causing mutation site of , and gain further insight into the pathophysiology of hydrocephalus.