Neurofibromatosis Type IIs

《英文msh詞典》Neurofibromatosis Type IIs
[入口詞] Neurofibromatosis Type IIs
[主題詞] Neurofibromatosis 2
[英文釋義] An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves,and other benign intracranial tumors including meningiomas,ependymomas,spinal neurofibromas,and gliomas. The disease has been linked to mutations of the NF2 gene (GENES,NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.