A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4 and KCNQ2 and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development.

from PLoS ONE

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Housed at the internationally renowned Callier Center for Communication Disorders, Callier Library a branch facility of the McDermott Library at The University of Texas at Dallas.

Posted on August 30, 2010, in Research. Bookmark the permalink. Leave a comment.

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