Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations
نویسندگان
چکیده
منابع مشابه
Hereditary haemorrhagic telangiectasia.
Hereditary haemorrhagic telangiectasia (Osler-Rendu-Weber syndrome) is an autosomal dominant vascular disorder, manifesting with telangiectases and bleeding in different parts of the body. We report a patient who presented with bleeding from various sites.
متن کاملHereditary haemorrhagic telangiectasia: neuropathological observations.
While the literature pertaining to hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu disease) has been quite extensive, very few reports have dealt with the neurological manifestations of the disease. Occasional anatomical studies have appeared, but reports of neuropathological findings have been rare. The purpose of the present paper is to provide neuropathological observations in a pa...
متن کاملNational mutation study among Danish patients with hereditary haemorrhagic telangiectasia.
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominantly inherited vascular disease characterized by the presence of mucocutaneous telangiectasia and visceral arteriovenous malformations (AVM). The clinical diagnosis of HHT is based on the Curaçao criteria. About 85% of HHT patients carry mutations in the ENG, ACVRL1 or SMAD4 genes. Here, we report on the genetic heterogeneity in...
متن کامل'Pseudocirrhosis' in hereditary haemorrhagic telangiectasia.
Telangiectasia-associated hepatic fibrosis (TAHF) in a 68-year-old woman with hereditary haemorrhagic telangiectasia (HHT) is described. The patient died of oat-cell carcinoma of the lung. In addition to the structural alterations which have been described previously in HHT, the liver exhibited focal midlobular hepatocytic necrosis and tumour metastases. The possibility that treatment of HHT wa...
متن کاملHereditary haemorrhagic telangiectasia: a clinical analysis.
Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose bleeding was the first symptom of disease in 90% of cases with mucocutaneous telangiectases appearing 5 to 20 years later. Complications of HHT are discussed and an age of onset curve given.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2006
ISSN: 1468-6244
DOI: 10.1136/jmg.2006.042606