Genetics and clinical progress of Marfan's syndrome
10.3760/cma.j.issn.1673-4408.2010.01.019
- VernacularTitle:马凡综合征的遗传学与临床诊治进展
- Author:
Lijian XIE
;
Min HUANG
- Publication Type:Journal Article
- Keywords:
Marfan's syndrome;
Mutation;
Gene
- From:
International Journal of Pediatrics
2010;37(1):59-61
- CountryChina
- Language:Chinese
-
Abstract:
Marfan's syndrome(MFS) is a relatively common autosomal dominant hereditary disorder with prominent manifestations in the skeletal, ocular, and cardiovascular systems. MFS has a high penetrance. Recent research on the pathogenesis and diagnosis and therapy of MFS has made a lot of progress. So we reviewed the advance on the relation of molecular genetics and phenotype of MFS.We discussed the molecular hasis, gene mutation and location, diagnosis, clinical features and therapy. Now the detection on the molecular level has been a very important method in diagnose MFS very early or before bom.
