Genetic Testing for Neurofibromatosis
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منابع مشابه
Neurofibromatosis, its types and treatment prospects
Neurofibromatosis is a genetic disorder that causes tumors in nerve tissue. These tumors can grow in any part of the nervous system, including the brain, spinal cord and nerves. The disease gene can be passed from a parent to a child through marked autosomal dominant inheritance or it can happen due to a spontaneous mutation of a gene. A parent with neurofibromatosis has a 50% chance of passing...
متن کاملA case report of neurofibromatosis
Introduction:Neurofibromatosis is a genetic disease characterized by multifocal benign tumors of peripheral nerves, called neurofibromas, and pigmented spots on the skin which inherited as autosomal-dominant. The most common form of the disease is neurofibromatosis type 1, also known as von Recklinghausen's disease of the skin. When an individual has small number of lesions in a limited region ...
متن کاملThe molecular genetics of neurofibromatosis type 1 and its future prospective
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that is caused through loss of function mutations of a tumor suppressor gene termed neurofibromin 1. Therapeutic decisions are presently restricted for NF1-associated tumors, where treatment is often restricted to thorough surgical resection with perfect margins. In this review article, the multif...
متن کاملNF1 Mutations Analysis Using Whole Exome Sequencing Technique in 11 Unrelated Iranian Families with Neurofibromatosis Type 1
Background Neurofibromatosis is an autosomal dominant disease. It affects one in 2,700 to 3,300 people. The main gene mutated in the disease is a tumor suppressor protein called neurofibromin. There are several categories, the most important of which is divided into two types of type I and type 2 neurofibromatosis. Here, we aimed to identify th...
متن کاملGenetic Testing for Neurofibromatosis type 1 and 2
The gene for NF1 was identified in 1990 and shortly thereafter, in 1993, the gene causing NF2 was discovered. Typically, when a gene is found, a diagnostic test soon follows. This has not been the case, though, with neurofibromatosis (especially type 1), despite the fact that we have learned a lot in the past decade about the basic mechanisms responsible for the tumors. Recently, however, major...
متن کاملSingle-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1
INTRODUCTION Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known. METHODS We identified a 23-year-old woman with a PMA of the spinal cord who was simultaneously diagnosed with n...
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تاریخ انتشار 2017