Neurofibromatosis Type 2: Genetic and Clinical Features
نویسندگان
چکیده
منابع مشابه
Genetic Diagnosis of Neurofibromatosis type 2
Introduction Neurofibromatosis type 2 is an autosomal dominant disease caused by mutations in the NF2 gene on 22q12.2. Its protein product, merlin, supposedly plays an important role in connecting membrane proteins with the cytoskeleton by coordinating growth-factor signalling. The most common mutations are truncating and splice site mutations, showing a genotype-phenotype correlation. A high r...
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INTRODUCTION Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited. MATERIAL AND METHODS The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 a...
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Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease that results from the expansion of an unstable trinucleotide CAG repeat encoding for a polyglutamine tract. In normal individuals, alleles contain between 14 and 31 CAG repeats, whereas the pathological alleles have more than 35 CAG repeats. The clinical phenotype of SCA2 includes a progressive cerebellar at...
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Objective: The objective of this article is to highlight the various soft tissue and skeletal manifestations of craniofacial neurofibromatosis and the challenges involved in the surgical management of patients with complex cases. Methodology:An extensive literature review was conducted to highlight the clinical features of craniofacial neurofibromatosis. The notable challenges of management fro...
متن کاملClinical and genetic patterns of neurofibromatosis 1 and 2.
General introduction to the neurofibromatoses The diseases traditionally known as neurofibromatosis have now been formally separated into two types: neurofibromatosis type 1 or NFl (the type described by von Recklinghausen) and neurofibromatosis type 2 or NF2 (a much rarer form).' It is now recognised that although they have overlapping features, including an inherited propensity to neurofibrom...
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ژورنال
عنوان ژورنال: Ear, Nose & Throat Journal
سال: 1999
ISSN: 0145-5613,1942-7522
DOI: 10.1177/014556139907800208