Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

The contactin-associated protein-like 2 (CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb dele...

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Bibliographic Details
Main Authors: Amel Al-Murrani, Fern Ashton, Salim Aftimos, Alice M. George, Donald R. Love
Format: Article
Language:English
Published: Hindawi Limited 2012-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2012/172408