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Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review

27 Jun 2016

Abstract excerpt

BACKGROUND: The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of the L1 family of neural cell adhesion molecules, and it plays a role in nervous system development and synaptic plasticity. Moreover, studies of mice have revealed that CHL1 is a prime candidate...

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PMID: 27354858
DOI: 10.1186/s13039-016-0261-9

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