The mystery of Williams-Beuren syndrome associated with pulmonary dysfunction, sudden death, and Kounis syndrome.


Williams–Beuren syndrome (WBS) is recognized as the result of deletion of approximately 1.5–1.8 Mb of chromosome 7q11.23 that includes the entire elastin gene in 97–98% of the cases [Lowery et al., 1995; Rodriguez-Revenga et al., 2005; Del Campo et al., 2006]. The result is an arterial media with increased number of hypertrophied smooth muscle cells… (More)
DOI: 10.1002/ajmg.a.33549