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- W2247156232 abstract "Williams syndrome (WS) is a genetic disorder of childhood characterized by mental retardation, distinctive facial features, vascular abnormalities (e.g., supravalvular aortic stenosis) as well as other medical problems associated. In this paper, we describe briefly clinical characteristics and diagnosis of this pathology, emphasizing especially the unusual neuropsychological profile exhibited in WS. Likewise, the main vascular, urinary, renal and ocular abnormalities associated to WS are also described. Finally, we examine the etiological aspects of this disease. Although WS is genetic, phenotypus is undoubtedly epigenetic, being probably caused by submicroscopic deletions within chromosomal subunit 7q11.23. Moreover, WSCR1 and, especially, LIM-Kinasa 1 genes might be particularly rele311" @default.
- W2247156232 created "2016-06-24" @default.
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- W2247156232 date "2000-01-01" @default.
- W2247156232 modified "2023-09-23" @default.
- W2247156232 title "Síndrome de Williams: aspectos psicobiológicos" @default.
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