Human GeneticsKainulainen K, Savolainen A, Palotie A, Kaitila I, Rosen- bloom J, Peltonen L. Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue compo- nents in the long arm of chromosome 2. Hum Genet 1990; 84: 233-236....
Marfan syndrome is a common mendelian disorder, with an estimated incidence of about 1 per 5000 births. Marfan syndrome is found throughout the world, without ethnic or geographic predilection. Pathobiology Pathogenesis Mutations in FBN1, which maps to human chromosome 15q21.1 and encodes fibrillin...
Marfan syndrome (MFS; MIM #154700) is a connective tissue disorder characterized by cardiovascular, skeletal, and ocular abnormalities. The fibrillin-1 gene (; MIM no. 134797) on chromosome 15 was revealed to be the cause of Marfan syndrome. To date over 137 types ofmutations have been ...
European Journal of Human Genetics EjhgFibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2 - Collod, ML, et al. - 1996 () Citation Context ...s are weakened, leading to aneurysm, has been linked to mutation of the FBN1 gene on chromosome 15 that ...
Background: Marfan syndrome, "the founding member" of the heritable disorders of connective tissue, is a common autosomal dominant disorder with highly variable clinical manifestations in the skeletal, ocular, and cardiovascular systems. The fundamental defect leading to this disease has escaped definitio...
Answer to: Marfan syndrome is a dominant trait. A cross between a homozygous dominant and a heterozygote would produce what phenotypic ratio? By...
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Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15 [1], which encodes fibrillin-1, a glycoprotein component of the extracellular matrix. The fibrillin geneis located on chromosome 15, is relatively large, and the coding sequence is divided into 65 exons. Described 3 alt...
This review provides an overview of Marfan syndrome with an emphasis on cardiovascular complications and cardiovascular imaging. Both pre- and post-operative imaging is addressed with an explanation of surgical management. All relevant imaging modalities
the fibrillin-3 gene in Marfan syndrome patients Received: 16 February 2004 / Accepted: 27 April 2004 / Published online: 23 June 2004 Ó The Japan Society of Human Genetics and Springer-Verlag 2004 Abstract Marfan syndrome (MFS) is an autosomal dominant disorder of the extracellular matrix. ...