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De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes
BACKGROUND: The CHL1 gene codes for a member of the L1 family of neural cell adhesion molecules. It is highly expressed in the central and peripheral nervous system playing an important role in the building and functioning on the brain. CHL1 proteins are also involved in axonal migration, synaptic f...
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| Publicado no: | Mol Cytogenet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4537544/ https://ncbi.nlm.nih.gov/pubmed/26279679 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0170-3 |
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