Article
Beckwith-Wiedemann syndrome: multiple molecular mechanisms.
Expert reviews in molecular medicine - 17 Jul 2006
Enklaar Thorsten, Zabel Bernhard U, Prawitt Dirk
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth condition with an increased risk of developing embryonic tumours, such as Wilms' tumour. The cardinal features are abdominal wall defects, macroglossia and gigantism. BWS is generally sporadic; only 10-15% of cases are familial. A variety of molecular aberrations have been associated with BWS. The only mutations within a gene are loss-of-function...
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