X-linked hydrocephaly
Definition
Hydrocephaly refers to the accumulation of cerebrospinal fluid (CSF) in the fluid-filled cavities, called ventricles, that are located deep in the core of the brain. The designation X-linked indicates that this form of hydrocephaly results from a mutation in a gene that is located on the X chromosome, in this case the L1 cell adhesion molecule (L1CAM) gene.
Description
Cell adhesion molecules (CAMs) provide the traffic signals that guide the cells of developing organs to migrate to their proper places and make the appropriate connections with the cells with which they interact. The L1CAM protein is embedded in the membrane of nerve cell axons. Axons are projections from the nerve cell body that carry...
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