Published 2013 | Version v1.0.0
Journal Article Open
Williams-Beuren Syndrome with Brain Dysplasia
Investigators from Jichi and Yokohama City Universities, Japan, report a patient with the common Williams-Beuren syndrome (WBS) deletion in 7q11.23 who presented with severe cerebral and cerebellar dysplasia and progressive hypertrophic cardiomyopathy.
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2013When the item was originally created.