马凡综合征：遗传基础与临床表现
Marfan syndrome: genetic basis and clinical manifestations.
作者信息
Tsipouras P, Devereux R B
机构信息
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030.
出版信息
Semin Dermatol. 1993 Sep;12(3):219-28.
PMID:8217560
Abstract
Marfan syndrome is a systemic heritable disorder of connective tissue. The manifestations of the disorder are primarily from the musculoskeletal, cardiovascular, and ocular systems. Marfan syndrome is caused by mutations in the fibrillin gene located on chromosome 15.
摘要
马凡综合征是一种全身性遗传性结缔组织疾病。该疾病的表现主要源于肌肉骨骼、心血管和眼部系统。马凡综合征由位于15号染色体上的原纤蛋白基因突变引起。
Zotero 插件