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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="Table of Contents Page" href="/books/n/gnd/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" alt="Cover of Genes and Disease" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>Genes and Disease [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK22203_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK22203_dtls__"><div>National Center for Biotechnology Information (US).</div><div>Bethesda (MD): <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>; 1998-.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gnd/">Contents</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gnd/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search this book" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search this book" submit="false" style="padding: 0.1em 0.4em;" /></div></form></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gnd/maplesyrupurinedisease/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gnd/menkessyndrome/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK22203_"><span class="title" itemprop="name">Marfan syndrome</span></h1></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/">See other Muscle and Bone Diseases</a>
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<a href="/books/n/gnd/A65/">See other Neonatal Diseases</a>
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<a href="/books/n/gnd/A89/">See other Skin and Connective Tissue Diseases</a>
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<div class="post-content"><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright Notice</a></div><div class="small"><span class="label">Bookshelf ID: NBK22203</span></div><div style="margin-top:2em" class="bk_noprnt"><a class="bk_cntns" href="/books/n/gnd/">Contents</a><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gnd/maplesyrupurinedisease/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gnd/menkessyndrome/" title="Next page in this title">Next ></a></div></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK22203/?report=reader">PubReader</a></li><li><a href="/books/NBK22203/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK22203" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK22203" style="display:none" title="Cite this Page"><div class="bk_tt">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></div></div></li><li><a href="/books/NBK22203/pdf/Bookshelf_NBK22203.pdf">PDF version of this page</a> (89K)</li><li><a href="/books/n/gnd/pdf/">PDF version of this title</a> (3.6M)</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Gene sequence</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
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<a href="/gene/2200" ref="pagearea=document-links&targetsite=entrez&targetcat=link&targettype=gene">Entrez Gene</a> collection of gene-related information</li><li>
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<a href="/sutils/blink.cgi?pid=4557591&org=1" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri">BLink</a> related sequences in different organisms </li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>The literature</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
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<a href="https://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=PureSearch&db=PubMed&details_term=marfan%20AND%20%22pubmed%20pmc%22%5BFilter%5D" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri">Research articles</a> online full text</li><li>
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