SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors
β Scribed by Smith, Miriam J.; Wallace, Andrew J.; Bowers, Naomi L.; Eaton, Helen; Evans, D. Gareth R.
- Book ID
- 122776699
- Publisher
- Elsevier
- Year
- 2014
- Tongue
- English
- Weight
- 105 KB
- Volume
- 207
- Category
- Article
- ISSN
- 2210-7762
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## Abstract The most common microdeletion in humans involves the 22q11 region. Congenital anomalies associated with 22q11 loss include cardiac and facial defects. Less frequent is the coβpresentation of malignant rhabdoid tumors that are highly aggressive childhood malignancies typically found in r
## Abstract We describe a neonate who had a rare tumor combination of a malignant rhabdoid tumor of the kidney (MRTK) and a brain primitive neuroectodermal tumor (PNET). Genetic alterations of the __SNF5/INI1/SMARCB1__ gene were investigated by PCRβsingleβstrand conformation polymorphism (SSCP), lo