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SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis

✍ Scribed by TJM Hulsebos; SB Kenter; ME Jakobs; F Baas; B Chong; MB Delatycki

Book ID
110888864
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
507 KB
Volume
77
Category
Article
ISSN
0009-9163

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## 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 PCR–single‐strand conformation polymorphism (SSCP), lo