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马凡综合征合并垂体瘤1例

Qi HuangYao-feng XU

2014国际心脑血管病杂志Biochemistry, Genetics and Molecular Biology被引 1开放获取

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摘要

Marfan syndrome (MFS) is a dominant inherited connective tissue disease. It has variable clinical manifestations and affects a number of systems, such as the cardiovascular system, eyes, skeletal, lung, skin etc. Fibrillin-1 ( FBN1 ) gene mutations are found in approximately 90% patients. The abnormal proteins originated from the mutant gene play a dominant negative effect on normal proteins or change their susceptibility of protease, which leads to the change of connective tissue. This paper reports the clinical data of a patient with Marfan syndrome accompanied by pituitary adenomas and reviews related literatures at home and abroad, to explore its pathogenesis.

引用本文(GB/T 7714)

Qi Huang, Yao-feng XU. 马凡综合征合并垂体瘤1例[J]. 国际心脑血管病杂志, 2014.

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DOI:https://doi.org/10.14725/gjccd.v2n1a285

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