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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Mol Cytogenet
Hauptverfasser: Palumbo, Orazio, Fischetto, Rita, Palumbo, Pietro, Nicastro, Francesco, Papadia, Francesco, Zelante, Leopoldo, Carella, Massimo
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2015
Schlagworte:
Online Zugang: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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