autosomal dominant disorder造句
1. Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin.
2. Conclusion: EXT is an autosomal dominant disorder and the penetrance is 97 % in this report.
3. Osteogenesis imperfecta(OMIM 166200)is an autosomal dominant disorder characterized by bone fragility and abnormalities of connective tissue.
4. Multiple osteochondromas can occur either spontaneously an autosomal dominant disorder known as hereditary multiple exostoses.
5. Genetic studies have shown that familial hypertrophic cardiomyopathy (FHCM) is an autosomal dominant disorder of heart muscle.
6. Multiple osteochondromas can occur either spontaneously or in an autosomal dominant disorder known as hereditary multiple exostoses .
7. BACKGROUND AND STUDY AIMS: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by telangiectasia formation that can lead to small-bowel bleeding.