Genetics and clinical progress of Marfan's syndrome / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 59-61, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-390559
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
International Journal of Pediatrics
Year:
2010
Type:
Article
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