Neurofibromatosis--Noonan's syndrome with associated rhabdomyosarcoma of the urinary bladder in an infant: case report.

Abstract excerpt

Neurofibromatosis 1 is an autosomal dominant disorder. Noonan's syndrome is known to be associated with neurofibromatoses. Patients with neurofibromatosis are predisposed to developing malignant tumors. The relationship between the genetic changes in the neurofibromin gene and mechanisms associated with tumor development in neurofibromatosis has been investigated. A non-sense mutation C2446T --> R816X of the...

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