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yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK22203_"><span class="title" itemprop="name">Marfan syndrome</span></h1><p class="fm-aai"><a href="#_NBK22203_pubdet_">Publication Details</a></p></div></div><div class="body-content whole_rhythm" itemprop="text"><p>Marfan syndrome is a connective tissue disorder, so affects many structures, including the skeleton, lungs, eyes, heart and blood vessels. The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln. </p><p>Marfan syndrome is an autosomal dominant disorder that has been linked to the <i>FBN1</i> gene on chromosome 15. <i>FBN1</i> encodes a protein called fibrillin, which is essential for the formation of elastic fibres found in connective tissue. Without the structural support provided by fibrillin, many tissues are weakened, which can have severe consequences, for example, ruptures in the walls of major arteries. </p><div class="iconblock whole_rhythm clearfix ten_col fig" id="figfibrillinfig" co-legend-rid="figlgndfibrillinfig"><a href="/books/NBK22203/figure/fibrillin_fig/?report=objectonly" target="object" title="The fibrillin protein" class="img_link icnblk_img figpopup" rid-figpopup="figfibrillinfig" rid-ob="figobfibrillinfig"><img class="small-thumb" src="/books/NBK22203/bin/fibrillin.gif" src-large="/books/NBK22203/bin/fibrillin.jpg" alt="The fibrillin protein. The fibrillin protein, mutated in Marfan syndrome, has about 60 domains, 47 of which bind calcium and have similarity to epidermal growth factor (EGF)." /></a><div class="icnblk_cntnt" id="figlgndfibrillinfig"><h4 id="fibrillin_fig"><a href="/books/NBK22203/figure/fibrillin_fig/?report=objectonly" target="object" rid-ob="figobfibrillinfig">The fibrillin protein</a></h4><p class="float-caption no_bottom_margin">The fibrillin protein, mutated in Marfan syndrome, has about 60 domains, 47 of which bind calcium and have similarity to epidermal growth factor (EGF). In this figure, two of these domains are shown with one calcium ion associated with each domain. To <a href="/books/NBK22203/figure/fibrillin_fig/?report=objectonly" target="object" rid-ob="figobfibrillinfig">(more...)</a></p></div></div><p>Beta blockers have been used to control some of the cardiovascular symptoms of Marfan syndrome; however, they are not effective against the skeletal and ocular problems, which can also be serious. A related disease has been found in mice, and it is hoped that the study of mouse fibrillin synthesis and secretion, and connective tissue formation, will further our understanding Marfan syndrome in humans. </p><div id="marfansyndrome.disease-categories"><h2 id="_marfansyndrome_disease-categories_">Related diseases</h2><ul class="simple-list"><li class="half_rhythm"><div>
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<a href="/books/n/gnd/A59/?report=reader">See other Muscle and Bone Diseases</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/A65/?report=reader">See other Neonatal Diseases</a>
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<a href="/books/n/gnd/A89/?report=reader">See other Skin and Connective Tissue Diseases</a>
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</div></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK22203_pubdet_">Publication Details</h2><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright Notice</a></div></div><h3>Publisher</h3><p><a href="https://www.ncbi.nlm.nih.gov/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">National Center for Biotechnology Information (US)</a>, Bethesda (MD)</p><h3>NLM Citation</h3><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Marfan syndrome.<span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gnd/maplesyrupurinedisease/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gnd/menkessyndrome/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="fig" id="figobfibrillinfig"><div id="fibrillin_fig" class="figure bk_fig"><div class="graphic"><img data-src="/books/NBK22203/bin/fibrillin.jpg" alt="The fibrillin protein. The fibrillin protein, mutated in Marfan syndrome, has about 60 domains, 47 of which bind calcium and have similarity to epidermal growth factor (EGF)." /></div><h3><span class="label">The fibrillin protein</span></h3><div class="caption"><p>The fibrillin protein, mutated in Marfan syndrome, has about 60 domains, 47 of which bind calcium and have similarity to epidermal growth factor (EGF). In this figure, two of these domains are shown with one calcium ion associated with each domain.</p><p><div class="graphic"><img src="/books/NBK22203/bin/cn3d.jpg" alt="The fibrillin protein. The fibrillin protein, mutated in Marfan syndrome, has about 60 domains, 47 of which bind calcium and have similarity to epidermal growth factor (EGF)." /></div>To see the <a href="/books/NBK22203/bin/fib.prt">interactive version</a> of this figure requires <a href="/Structure/CN3D/cn3d.shtml" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Cn3D</a>, a three-dimensional structure viewer.</p></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script></div></div>
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