Analysis of CDKN1C in Beckwith Wiedemann Syndrome
✍ Scribed by Elizabeth Algar; Samantha Brickell; Gillian Deeble; David Amor; Peter Smith
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 359 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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Wiedemann-Beckwith syndrome (WBS) is a heterogeneous overgrowth syndrome associated with malformations and an elevated risk of developing embryonal tumors. WBS is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes within the 11p15 region. Elucidation of the genetic ca
## Abstract Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome associated with macroglossia, abdominal wall defects, ear anomalies, and an increased risk for embryonic tumors. Reported tumor risk estimates vary between 4% and 21%. It has been hypothesized that tumor predisposition in BWS i
Wiedemann-Beckwith syndrome (WBS) has attracted a great deal of attention because of its genetic complexity. Individuals with WBS can be identified objectively by anthropometric analysis. Craniofacial anthropometry in conjunction with multivariate statistical analysis can be used to define patterns