Generalized metabolic bone disease in Neurofibromatosis type I
نویسندگان
چکیده
منابع مشابه
Minimal Change Disease in a Patient with Neurofibromatosis Type I
Neurofibromatosis type I (NF-1), the most common neurocutaneous disorder, can be an inherent or spontaneous mutation of the NF-1 gene on chromosome 17q11.2 and encodes neurofibromin proteins. There have only been a few cases reported of NF-1 associated with nephrotic syndrome and the relation rests unclear. Herein, we present a case of NF-1 combined with minimal change disease (MCD).
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OBJECTIVES/HYPOTHESIS To describe the histopathologic findings in the temporal bone in patients with neurofibromatosis type 2 (NF2). The literature contains limited data on otopathology of NF2. STUDY DESIGN Basic science study. METHODS Twenty-six temporal bones from 16 patients with NF2 were examined by light microscopy. The diagnosis of NF2 was made on the basis of bilateral cochleovestibu...
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Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia. The NF1 gene functions as a tumor suppressor, but haploinsuffiency probably accounts for some aspects of the non-tumor phenotype. The protein product, n...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2008
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2007.12.004