نتایج جستجو برای: neurofibromatosis type 1
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Introduction:Neurofibromatosis is a genetic disease characterized by multifocal benign tumors of peripheral nerves, called neurofibromas, and pigmented spots on the skin which inherited as autosomal-dominant. The most common form of the disease is neurofibromatosis type 1, also known as von Recklinghausen's disease of the skin. When an individual has small number of lesions in a limited region ...
how to cite this article: paul sp, ahmed s, painless loss of vision as the first presentation of undiagnosed neurofibromatosis 1 in a child. iran j child neurol. autumn 2015;9(4):58-60. abstract objective a 10 year old presented with painless loss of vision as the first manifestation of neurofibromatosis 1 (nf1). clinical assessment detected diagnostic features of nf1 and magnetic resonance ima...
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical...
Segmental neurofibromatosis type I (SNF-I) is a rare variant of neurofibromatosis (NF). It is classified as NF type V and defined as cafe'-au-lait macules and/or neurofibromas in a single ,unilateral segment of the body .We report two cases with SNF-I with striking similar manifestations.
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