Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome
β Scribed by Kim, Yoo-Mi; Kim, Gu-Hwan; Lee, Beom; Lee, Jin-Joo; Choi, Seong-Hoon; Lee, Ju; Yoo, Han-Wook
- Book ID
- 121617228
- Publisher
- BioMed Central
- Year
- 2013
- Tongue
- English
- Weight
- 332 KB
- Volume
- 2013
- Category
- Article
- ISSN
- 1687-9848
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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
A specific subset of solid childhood tumors-Wilms' tumor, adrenocortical carcinoma, rhabdomyosarcoma, and hepatoblastoma-is characterized by its association with Beckwith-Wiedemann syndrome. Genetic abnormalities found in these tumors affect the same chromosome region (11p15), which has been implica