CORDIS Project
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This project focuses on understanding the clinical and molecular aspects of the 7q11.23 microduplication syndrome. By creating human neuronal models, it aims to identify gene expression alterations and dysregulated pathways associated with this genetic disorder.
Technological advances have allowed the identification of multiple rare rearrangements caused by structural and copy number variants (CNVs).
The 7q11.23 microduplication syndrome (7dup) and Williams-Beuren (WBS) syndromes are originated by genomic reciprocal rearrangements that result in opposite phenotypic features in the area of communication and sociability.
Although WBS has been extensively studied, there is lack of exhaustive studies of 7dup at the clinical and molecular levels.
In this pro…
UNIVERSIDAD POMPEU FABRA
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