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Original Article

Clinical Characteristics of Williams Syndrome

Choong Ho Shin, Ho Sung Kim, Sei Won Yang, Jung Yun Choi

Clin Exp Pediatr. 2001;44(4):443-449. Published online April 15, 2001

Purpose : Williams syndrome(WS) is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. We evaluated the physical, neurodevelopmental, and behavioral characteristics of children and adults with WS confirmed by fluorescence in situ hybridization. Methods : The clinically suspicious twelve cases with cardiac anomaly were confirmed as WS with fluorescence in...

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