Article
Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.
European journal of medical genetics - 1 Jan 2000
Abadie C, Bernard F, Netchine I, Sanlaville D, Roque A, Rossignol S, Coupier I
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth syndrome associated with an increased risk in childhood tumours. The phenotypic variability in BWS reflects its molecular heterogeneity. This syndrome is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes in the 11p15.5 region. The most commonly reported tumours in this syndrome are tumours of embryologic origin such as Wilms...
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