Genetic Counseling in Neurofibromatosis Type 1
نویسندگان
چکیده
منابع مشابه
[Phenotypic and genetic features in neurofibromatosis type 1 in children].
INTRODUCTION Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited. MATERIAL AND METHODS The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 a...
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The gene for NF1 was identified in 1990 and shortly thereafter, in 1993, the gene causing NF2 was discovered. Typically, when a gene is found, a diagnostic test soon follows. This has not been the case, though, with neurofibromatosis (especially type 1), despite the fact that we have learned a lot in the past decade about the basic mechanisms responsible for the tumors. Recently, however, major...
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Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. The clinical manifestations are diverse. Some of the skeletal changes are most relevant to the patient. We report on 9 patients with NF1 who presented with typical pseudarthrosis. In 8 of these children the lower extremity was involved. In 2 cases lesions of both tibia and fibula were found, in one case even over long seg...
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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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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...
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ژورنال
عنوان ژورنال: The Journal of Pediatric Research
سال: 2014
ISSN: 2147-9445
DOI: 10.4274/jpr.02997