马凡综合征(Marfan syndrome, MFS)由法国儿科医生Antoim Marfan在1986年命名。他描述了一名5岁的女孩,其上肢、下肢、手指和足趾都不成比例的长且细,肌肉发育很差,脊柱有侧弯,建议定名为细长指。1902年Ackard提出用蜘蛛足样指命名;以后Borger等强调了眼部症状,特别是将晶状体脱位作为本病的特征;1912年Salle首先注意...
MARFAN syndromeFIBRILLINATOMIC force microscopyGENETIC mutationHEART cellsCELL cultureMarfan syndrome (MFS) is a systemic disorder of connective tissue caused by pathogenic variants in the fibrillin-1 () gene. Myocardial dysfunction has been demonstrated in MFS patients and mouse models, but little is ...
Marfan syndrome (MFS) is a systemic disorder of connective tissue caused by pathogenic variants in the fibrillin-1 (FBN1) gene. Myocardial dysfunction has been demonstrated in MFS patients and mouse models, but little is known about the intrinsic effect on the cardiomyocytes (CMs). In this stu...
Marfan syndrome is a connective tissue disorder with an autosomal dominant inheritance pattern caused by a mutation in the fibrillin-1 gene. A total of 80% of patients with Marfan syndrome will have cardiac involvement including aortic dilatation, aortic regurgitation, and mitral or tricuspid valve ...
·Marfan syndrome is an inherited connective tissue disease characterized by aortic root dilation, aneurysm, or dissection, ectopia lentis, and skeletal deformities. ·Autosomal dominant pathogenic variants inFBN1gene encoding fibrillin 1cause Marfan syndrome. ...
Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a...
fibrillin‐1 (FBN1)heterozygous mutationMarfan syndrome (MFS)targeted next‐generation sequencing (NGS)BackgroundPrevious studies showed that the fibrillin‐1 gene (FBN1) is responsible for Marfan sydrome (MFS) pathogenesis. This study is conducted to screen for mutations in the FBN1 gene in ...
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an autosoma... HC Dietz,CR Cutting,RE Pyeritz,... - 《Nature》...
Marfan syndrome (MFS) is a connective tissue disorder comprising multiple organ manifestations caused by a mutation in the gene FBN1 that codes for the protein, fibrillin-1 [1]. Thoracoscopic Treatment of Pneumothorax in Marfan Syndrome: Hemostatic Patch to Support Lung Resection Recovery Marfan syn...
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an autosoma... HC Dietz,CR Cutting,RE Pyeritz,... - 《Nature》...