نتایج جستجو برای: genetic syndromes
تعداد نتایج: 687913 فیلتر نتایج به سال:
IInherited arrhythmia syndromes are electrical myopathies with genetic origins and risk of sudden death. They may present from infancy through adulthood, although the specific diseases have stereotypic but variable phenotypic onset and severity. There is clinical and genetic overlap among the syndromes, with variable penetrance and expressivity. Although underlying mechanisms of arrhythmogenesi...
Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac syndromes commonly follow an autosomal dominant pattern of inheritance. Diagnosis, however, can be difficult, mainly due to incomplete penetrance a...
Gastrointestinal cancer is one of the major causes of death worldwide. Hereditary gastrointestinal cancer syndromes constitute about 5-10% of all cancers. About 20-25% of undiagnosed cases have a possible hereditary component, which is not yet established. In the last few decades, the advance in genomics has led to the discovery of multiple cancer predisposition genes in gastrointestinal cancer...
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