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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),… Click to show full 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 the development of the nervous system. The objective of the study was to report a new disease‐causing mutation site of L1CAM, and gain further insight into the pathophysiology of hydrocephalus.
Keywords:
linked hydrocephalus;
l1cam;
mutation l1cam;
frameshift mutation;
new frameshift
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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recommendations!