Neurofibromatosis Type 2: Information for Patients & Families
نویسندگان
چکیده
Neurofibromatosis Type 2 is a rare genetic disease, which causes nervous system tumors. We have written this pamphlet to give you some basic information about a complicated process. We hope you will use this information to ask more questions of your healthcare provider. We have tried, whenever possible, to include and explain medical terminology that you may encounter. A glossary of medical terms is included at the end of this pamphlet.
منابع مشابه
NF1 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 کاملSpinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study.
OBJECTIVE To delineate the clinical phenotype, molecular basis, and implications for screening in patients and families with multiple schwannomas not generally involving the cranium. METHODS As part of a United Kingdom clinical and genetic study of type 2 neurofibromatosis (NF2) patients and families with multiple schwannomas who do not fulfil diagnostic criteria for NF2 have been identified....
متن کاملSpinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis : a clinical and molecular study D
Received 5 August 1996 and in revised form 2 December 1996 Accepted 10 December 1996 Abstract Objective-To delineate the clinical phenotype, molecular basis, and implications for screening in patients and families with multiple schwannomas not generally involving the cranium. Methods-As part of a United Kingdom clinical and genetic study of type 2 neurofibromatosis (NF2) patients and families w...
متن کاملA review on 17 cases of type I Neurofibromatosis associated with malignancies
Background: Neurofibromatosis 1 (NF1) is a relatively common autosomal dominant condition. Among the complications of the disease, such as neurological disorders, hypertension and skeletal deformities, malignancy is the most serious one and is the main cause of early death in these patients. Objective: Review of cases of NF-1 associated with malignancies. Patents and Methods: In a retrospective...
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...
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تاریخ انتشار 2005