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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Bibliografiska uppgifter
Huvudupphovsmän: Al-Murrani, Amel, Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Hindawi Publishing Corporation 2012
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3447220/
https://ncbi.nlm.nih.gov/pubmed/23074684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/172408
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