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