912 top medical experts on Neurofibromatosis 1 across 40 countries and 37 U.S. states, including 870 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic neural crest. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially optic nerve glioma and neurofibrosarcoma. NF1 is caused by mutations which inactivate the NF1 gene (genes, neurofibromatosis 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with noonan syndrome in a syndrome called neurofibromatosis-Noonan syndrome. Both the ptpn11 and NF1 gene products are involved in the signal transduction pathway of Ras (RAS proteins).
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Peripheral Nervous System Diseases (2,064), Neurofibromatoses (693).
- Clinical Trials : at least 135 including 12 Active, 58 Completed, 35 Recruiting
- Synonyms: Peripheral Neurofibromatosis, Recklinghausen Disease of Nerve, von Recklinghausen Disease
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