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Detailed clinical and molecular characterization of 96 patients with Williams-Beuren syndrome (WBS) was performed to explore clinical-molecular correlations (Miguel Del Campo, Anna Antonell, et. al.). The results, published in American Journal of Human Genetics, (78:533-542, 2006), indicate that the loss of a functional copy of NCF1 protects a proportion of patients with WBS against hypertension, likely through a lifelong reduced angiotensin II–mediated oxidative stress.
Author Contact: Luis A. Pérez Jurado
Unitats de Genètica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona. Abstract available online. (C) 2006 by The American Society of Human Genetics. Posted by: Tressie Dalaya
Message posted by: Trevor M. D'Souza
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