Article
Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.
Hormone research in paediatrics - 1 Jan 2013
Brioude F, Lacoste A, Netchine I, Vazquez M-P, Auber F, Audry G, Gauthier-Villars M, Brugieres L, Gicquel C, Le Bouc Y, Rossignol S
Abstract excerpt
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with an increased risk of pediatric tumors. The underlying molecular abnormalities may be genetic (CDKN1C mutations or 11p15 paternal uniparental isodisomy, pUPD) or epigenetic (imprinting center region 1, ICR1, gain of methylation, ICR1 GOM, or ICR2 loss of methylation, ICR2 LOM). AIM: We aimed to describe a cohort of 407 BWS...
Topics
- Adult
- Beckwith-Wiedemann Syndrome
- Cell Transformation, Neoplastic
- Child
- Child Development
- Child, Preschool
- Cohort Studies
- Female
- Genetic Predisposition to Disease
- Humans
- Infant
- Infant, Newborn
- Male