Genotype–phenotype correlation in von Hippel‐Lindau disease
نویسندگان
چکیده
منابع مشابه
Multiple Sclerosis Diagnosed in a Woman With Von-Willebrand Disease: A Case Report
Background: Von-Willebrand Disease (VWD) is the most common inherited bleeding disorder with an autosomal inheritance pattern. Multiple Sclerosis (MS) is a neurological disease, causing neurodegeneration and demyelination of the central nervous system through autoimmune mechanisms, and is a major cause of non-traumatic disabilities in youths. Some studies have shown the higher plasma activity o...
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BACKGROUND Malignant peripheral nerve sheath tumours (MPNST) are known to develop in patients with Neurofibromatosis type I (NF1) resulting in a decreased overall survival. The association between NF1 and the development of such MPNST has been investigated in detail. The biological behaviour however of multiple disseminated neurofibromas in patients with NF1 and the risk factors for malignant t...
متن کاملGenotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.
OBJECTIVES To characterize the germline mutations found in a large population of persons having von Hippel-Lindau (VHL) disease mutations with the clinical characteristics of associated retinal capillary hemangioblastomas (RCHs), to measure the prevalence of RCHs among patients with VHL disease generally and specifically for each genotype category, to establish genotype-phenotype correlations b...
متن کاملscreening of von willebrand disease in iranian women with menorrhagia
conclusions the high prevalence of vwd among our patients was the same as other previous reports, suggesting low awareness about this disease and under diagnosis of mild cases. results mean age of our patients was 32.5 ± 10.6 years. the level of von willebrand factor in 22.5% and von willebrand activity in 19.6% of patients was abnormal. the prevalence of vwd among patients with menorrhagia was...
متن کاملVon Willebrand's disease in dogs.
Von Willebrand's disease, the most common, mild, inherited bleeding disorder of animals, is an autosomal trait generally causing high morbidity and low mortality and affecting many breeds of dogs. Clinical signs include hematuria, epistaxis, gingival or genital mucosal bleeding, lameness, and prolonged bleeding from cut nails or wounds. Concurrent hypothyroidism exacerbates the disease. Affecte...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2021
ISSN: 1755-375X,1755-3768
DOI: 10.1111/aos.14843