منابع مشابه
Neurofibromatosis type 2 D
Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, aVecting particularly the superior vestibular branch of the 8th cranial nerve, usually bilaterally. Meningiomas and other benign ce...
متن کاملNeurofibromatosis type 2.
Neurofibromatosis type 2 (NF2) is a rare syndrome characterized by bilateral vestibular schwannomas, multiple meningiomas, cranial nerve tumors, spinal tumors, and eye abnormalities. NF2 presents unique challenges to the otologist because hearing loss may be the presenting complaint leading to the diagnosis of the disorder. Care of patients with NF2 requires knowledge of all tumors and symptoms...
متن کاملMeningioangiomatosis Without Neurofibromatosis Type 2
Meningioangiomatosis (MA) is a rare, benign hamartomatous lesion found in cerebral cortex and leptomeninges. It occurs mostly in 5 - 15 year old children in form isolated or diffuse; the diffuse form may be associated with neurofibromatosis type 2 (NF2). The sporadic type in the adults is less common.The patient was a 37 year-old man with a long history of frontal headache. In suspected sinusit...
متن کاملNF2 gene in neurofibromatosis type 2 patients.
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. The schwannomin (also termed merlin) protein encoded by the NF2 gene shows a close relationship to the family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins). Even though penetrance of the disease is >95% and no genetic heterogeneity has been described, po...
متن کاملGenetic 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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ژورنال
عنوان ژورنال: Journal of Nihon University Medical Association
سال: 2012
ISSN: 0029-0424,1884-0779
DOI: 10.4264/numa.71.113