Genotype – phenotype relationship in Hereditary Hemorrhagic Telangiectasia
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منابع مشابه
Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations.
BACKGROUND AND PURPOSE Hereditary hemorrhagic telangiectasia is an autosomal dominant disease that presents in 10%-20% of patients with various brain vascular malformations. We aimed to report the radiologic features (phenotype) and the genotype-phenotype correlations of brain vascular malformations in hereditary hemorrhagic telangiectasia. MATERIALS AND METHODS Demographic, clinical, genotyp...
متن کاملGenotype-phenotype relationship in hereditary haemorrhagic telangiectasia.
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by vascular malformations in multiple organ systems, resulting in mucocutaneous telangiectases and arteriovenous malformations predominantly in the lungs (pulmonary arteriovenous malformation; PAVM), brain (cerebral arteriovenous malformation; CAVM), and liver (hepatic arteriovenous malformation; HAVM)....
متن کاملImpact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia.
CONCLUSIONS Patients with hereditary hemorrhagic telangiectasia genotype ALK-1 (HHT2-ALK-1) with nonsense mutation demonstrated tendentially higher health-related quality of life (HR-QOL) scores than patients with HHT with genotype ENG (HHT1-ENG) with missense mutation. OBJECTIVE HHT, also known as Osler-Weber-Rendu syndrome, comprises different expressions depending on genetic type and mutat...
متن کاملMouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality.
BACKGROUND Mutations in endoglin or activin like kinase-1, both involved in the endothelial transforming growth factor-beta signaling pathway, cause the autosomal dominant bleeding disorder hereditary hemorrhagic telangiectasia. We and others have reported mouse models for this disease that share the characteristic phenotype of dilated vessels and sporadic hemorrhage. The reasons for the variab...
متن کاملHereditary benign Telangiectasia: Report of 6 cases in a family
Hereditary benign telangiectasia is an uncommon idiopathic skin disorder characterized by generalized telangiectases and angiomatous lesions of the skin. The diagnosis should be suspected in patients with such cutaneous lesions, positive family history, no associated bleeding problems, and no mucosal involvement. We present six cases of hereditary benign telangiectasia in three generations of o...
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