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A new frameshift mutation in L1CAM producing X‐linked hydrocephalus
BACKGROUND: 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...
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| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6978236/ https://ncbi.nlm.nih.gov/pubmed/31756056 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1031 |
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