منابع مشابه
NF1 gene and neurofibromatosis 1.
Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria. The presentation of many of the clinical features ...
متن کاملNeurofibromatosis type 1 (NF1): diagnosis and management.
Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the neurofibroma, a benign peripheral nerve sheath tumor. The gene for NF1 was cloned on chromosome 17q11.2 and neurofibromin, the NF1 protein, controls c...
متن کاملNeurofibromatous neuropathy in neurofibromatosis 1 (NF1).
BACKGROUND Neurofibromatosis 1 (NF1) is a common, autosomal dominant, neurocutaneous disease that is clinically and genetically distinct from the rare condition neurofibromatosis 2 (NF2). Neurofibromatous neuropathy has been regarded as a common feature of NF2, but is an unusual and unexplained complication of NF1. The clinical and histological features of the NF1 neuropathy are distinct from t...
متن کاملAn Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
متن کاملcDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.
Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. Portions of the gene have been recently identified by positional cloning, and sequence analysis has shown homology to the GTPase activating protein (GAP) family. In this report we present the ...
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ژورنال
عنوان ژورنال: American Journal of Epidemiology
سال: 2000
ISSN: 0002-9262,1476-6256
DOI: 10.1093/oxfordjournals.aje.a010118