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Published 2013 | Version v1.0.0
Journal Article Open

Williams-Beuren Syndrome with Brain Dysplasia

Abstract

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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Created:
March 30, 2023
Modified:
March 30, 2023