BILATERAL ACOUSTIC NEUROFIBROMATOSIS
\ba͡ɪlˈatəɹə͡l ɐkˈuːstɪk njˌuːɹəfˌɪbɹəmɐtˈə͡ʊsɪs], \baɪlˈatəɹəl ɐkˈuːstɪk njˌuːɹəfˌɪbɹəmɐtˈəʊsɪs], \b_aɪ_l_ˈa_t_ə_ɹ_əl ɐ_k_ˈuː_s_t_ɪ_k n_j_ˌuː_ɹ_ə_f_ˌɪ_b_ɹ_ə_m_ɐ_t_ˈəʊ_s_ɪ_s]\
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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.
By DataStellar Co., Ltd
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
- bilander
- bilarcil
- bilate of soda
- bilateral
- bilateral acoustic neurofibromatoses
- Bilateral Acoustic Neurofibromatosis
- bilateral clearing agreement
- bilateral collateral
- bilateral contract
- bilateral deafness
- bilateral deafnesses