FAMILIAL ACOUSTIC NEUROMAS
\famˈɪlɪəl ɐkˈuːstɪk njuːɹˈə͡ʊməz], \famˈɪlɪəl ɐkˈuːstɪk njuːɹˈəʊməz], \f_a_m_ˈɪ_l_ɪ__ə_l ɐ_k_ˈuː_s_t_ɪ_k n_j_uː_ɹ_ˈəʊ_m_ə_z]\
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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.
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.