Beckwith-Wiedemann syndrome and splenic hemangioma: report of a case
β Scribed by T. E. Herman; P. W. H. McAlister; L. P. Dehner; M. Skinner
- Publisher
- Springer-Verlag
- Year
- 1997
- Tongue
- English
- Weight
- 627 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0301-0449
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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
Genomic imprinting of chromosome arm 11p is involved in the Wiedemann-Beckwith syndrome (WBS). About 20% of patients with sporadic WBS have paternal uniparental disomy (UPD) of 11p. Mitotic recombination at the 11p region has been suggested to be responsible for the somatic mosaicism in these patien