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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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Detalles Bibliográficos
Autores principales:	Palumbo, Orazio, Fischetto, Rita, Palumbo, Pietro, Nicastro, Francesco, Papadia, Francesco, Zelante, Leopoldo, Carella, Massimo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537544/ https://www.ncbi.nlm.nih.gov/pubmed/26279679 http://dx.doi.org/10.1186/s13039-015-0170-3

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