Analysis of the evolving clinical phenotype and molecular mechanisms in Williams-Beuren syndrome 

Palacios Verdú, María Gabriela (Date of defense: 2015-10-19)

Williams-Beuren syndrome is a neurocognitive disorder with multisystemic manifestations of variable expressivity caused by a 1.55-1.83 Mb at chromosomal band 7q11.23. In this thesis project we have characterized the 7q11.23 ...