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|
||
<!--
|
||
UID=1792298
|
||
ConceptID=C5555857
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">RASopathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1792298</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5555857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Noonan spectrum disorder; rasopathies</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/161742">SPRED1</a>, <a target="_blank" href="/gene/23092">ARHGAP26</a>, <a target="_blank" href="/gene/8216">LZTR1</a>, <a target="_blank" href="/gene/8036">SHOC2</a>, <a target="_blank" href="/gene/6654">SOS1</a>, <a target="_blank" href="/gene/6016">RIT1</a>, <a target="_blank" href="/gene/5894">RAF1</a>, <a target="_blank" href="/gene/5781">PTPN11</a>, <a target="_blank" href="/gene/5604">MAP2K1</a>, <a target="_blank" href="/gene/4893">NRAS</a>, <a target="_blank" href="/gene/4763">NF1</a>, <a target="_blank" href="/gene/3845">KRAS</a>, <a target="_blank" href="/gene/3265">HRAS</a>, <a target="_blank" href="/gene/867">CBL</a>, <a target="_blank" href="/gene/673">BRAF</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0021060" target="_blank">MONDO:0021060</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=536391">ORPHA536391</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A group of genetic disorders associated with mutation(s) in genes that are constituents of the RAS signaling pathway. These disorders are characterized by distinct facial features, developmental delays, cardiac defects, growth delays, and feeding problems. Representative examples include: neurofibromatosis type 1, capillary malformation-arteriovenous malformation syndrome, cardiofaciocutaneous syndrome, Costello syndrome, multiple lentigines syndrome, and Noonan syndrome. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5555857[DISCUI]&test_type=Clinical" ref="ncbi_uid=1792298">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1792298" ref="ncbi_uid=1792298">V</a></span></span><span class="TLline">RASopathy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN029449[DISCUI]&test_type=Clinical" ref="ncbi_uid=852267">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1186/" ref="ncbi_uid=852267">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=852267" ref="ncbi_uid=852267">V</a></span></span><span class="TLline"><a href="/medgen/852267" ref="tree=GTR&ncbi_uid=852267&link_uid=852267" title="View MedGen record for 'Cardiofaciocutaneous syndrome 1'">Cardiofaciocutaneous syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0587248[DISCUI]&test_type=Clinical" ref="ncbi_uid=108454">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=108454" target="_blank" href="/omim/190020">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1507/" ref="ncbi_uid=108454">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=108454" ref="ncbi_uid=108454">V</a></span></span><span class="TLline"><a href="/medgen/108454" ref="tree=GTR&ncbi_uid=108454&link_uid=108454" title="View MedGen record for 'Costello syndrome'">Costello syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551558[DISCUI]&test_type=Clinical" ref="ncbi_uid=1647111">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647111" target="_blank" href="/omim/135300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1647111" ref="ncbi_uid=1647111">V</a></span></span><span class="TLline"><a href="/medgen/1647111" ref="tree=GTR&ncbi_uid=1647111&link_uid=1647111" title="View MedGen record for 'Fibromatosis, gingival, 1'">Fibromatosis, gingival, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0349639[DISCUI]&test_type=Clinical" ref="ncbi_uid=138109">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=138109" target="_blank" href="/omim/165360">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=138109" ref="ncbi_uid=138109">V</a></span></span><span class="TLline"><a href="/medgen/138109" ref="tree=GTR&ncbi_uid=138109&link_uid=138109" title="View MedGen record for 'Juvenile myelomonocytic leukemia'">Juvenile myelomonocytic leukemia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969623[DISCUI]&test_type=Clinical" ref="ncbi_uid=370709">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370709" target="_blank" href="/omim/609291">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK47312/" ref="ncbi_uid=370709">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370709" ref="ncbi_uid=370709">V</a></span></span><span class="TLline"><a href="/medgen/370709" ref="tree=GTR&ncbi_uid=370709&link_uid=370709" title="View MedGen record for 'Legius syndrome'">Legius syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410530[DISCUI]&test_type=Clinical" ref="ncbi_uid=98377">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98377" target="_blank" href="/omim/156250">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98377" ref="ncbi_uid=98377">V</a></span></span><span class="TLline"><a href="/medgen/98377" ref="tree=GTR&ncbi_uid=98377&link_uid=98377" title="View MedGen record for 'Metachondromatosis'">Metachondromatosis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027831[DISCUI]&test_type=Clinical" ref="ncbi_uid=18013">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0027831[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=18013">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18013" target="_blank" href="/omim/162200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1109%20OR%20NBK1294)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=18013">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18013" ref="ncbi_uid=18013">V</a></span></span><span class="TLline"><a href="/medgen/18013" ref="tree=GTR&ncbi_uid=18013&link_uid=18013" title="View MedGen record for 'Neurofibromatosis, type 1'">Neurofibromatosis, type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0028326[DISCUI]&test_type=Clinical" ref="ncbi_uid=18073">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18073" target="_blank" href="/omim/163950">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=18073">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18073" ref="ncbi_uid=18073">V</a></span></span><span class="TLline"><a href="/medgen/18073" ref="tree=GTR&ncbi_uid=18073&link_uid=18073" title="View MedGen record for 'Noonan syndrome'">Noonan syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551602[DISCUI]&test_type=Clinical" ref="ncbi_uid=1638960">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1638960" target="_blank" href="/omim/163950">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=1638960">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1638960" ref="ncbi_uid=1638960">V</a></span></span><span class="TLline"><a href="/medgen/1638960" ref="tree=GTR&ncbi_uid=1638960&link_uid=1638960" title="View MedGen record for 'Noonan syndrome 1'">Noonan syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854469[DISCUI]&test_type=Clinical" ref="ncbi_uid=344290">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344290" target="_blank" href="/omim/600574">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=344290">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344290" ref="ncbi_uid=344290">V</a></span></span><span class="TLline"><a href="/medgen/344290" ref="tree=GTR&ncbi_uid=344290&link_uid=344290" title="View MedGen record for 'Noonan syndrome 2'">Noonan syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1860991[DISCUI]&test_type=Clinical" ref="ncbi_uid=349931">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349931" target="_blank" href="/omim/190070">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=349931">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349931" ref="ncbi_uid=349931">V</a></span></span><span class="TLline"><a href="/medgen/349931" ref="tree=GTR&ncbi_uid=349931&link_uid=349931" title="View MedGen record for 'Noonan syndrome 3'">Noonan syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853120[DISCUI]&test_type=Clinical" ref="ncbi_uid=339908">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339908" target="_blank" href="/omim/182530">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=339908">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339908" ref="ncbi_uid=339908">V</a></span></span><span class="TLline"><a href="/medgen/339908" ref="tree=GTR&ncbi_uid=339908&link_uid=339908" title="View MedGen record for 'Noonan syndrome 4'">Noonan syndrome 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969057[DISCUI]&test_type=Clinical" ref="ncbi_uid=370589">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370589" target="_blank" href="/omim/164760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=370589">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370589" ref="ncbi_uid=370589">V</a></span></span><span class="TLline"><a href="/medgen/370589" ref="tree=GTR&ncbi_uid=370589&link_uid=370589" title="View MedGen record for 'Noonan syndrome 5'">Noonan syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750732[DISCUI]&test_type=Clinical" ref="ncbi_uid=413028">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413028" target="_blank" href="/omim/164790">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=413028">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413028" ref="ncbi_uid=413028">V</a></span></span><span class="TLline"><a href="/medgen/413028" ref="tree=GTR&ncbi_uid=413028&link_uid=413028" title="View MedGen record for 'Noonan syndrome 6'">Noonan syndrome 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150970[DISCUI]&test_type=Clinical" ref="ncbi_uid=462320">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462320" target="_blank" href="/omim/164757">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=462320">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462320" ref="ncbi_uid=462320">V</a></span></span><span class="TLline"><a href="/medgen/462320" ref="tree=GTR&ncbi_uid=462320&link_uid=462320" title="View MedGen record for 'Noonan syndrome 7'">Noonan syndrome 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809233[DISCUI]&test_type=Clinical" ref="ncbi_uid=815563">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815563" target="_blank" href="/omim/609591">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=815563">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815563" ref="ncbi_uid=815563">V</a></span></span><span class="TLline"><a href="/medgen/815563" ref="tree=GTR&ncbi_uid=815563&link_uid=815563" title="View MedGen record for 'Noonan syndrome 8'">Noonan syndrome 8</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0175704[DISCUI]&test_type=Clinical" ref="ncbi_uid=104494">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=104494" target="_blank" href="/omim/151100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=104494">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=104494" ref="ncbi_uid=104494">V</a></span></span><span class="TLline"><a href="/medgen/104494" ref="tree=GTR&ncbi_uid=104494&link_uid=104494" title="View MedGen record for 'Noonan syndrome with multiple lentigines'">Noonan syndrome with multiple lentigines</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551484[DISCUI]&test_type=Clinical" ref="ncbi_uid=1631694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1631694" target="_blank" href="/omim/151100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=1631694">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1631694" ref="ncbi_uid=1631694">V</a></span></span><span class="TLline"><a href="/medgen/1631694" ref="tree=GTR&ncbi_uid=1631694&link_uid=1631694" title="View MedGen record for 'LEOPARD syndrome 1'">LEOPARD syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969056[DISCUI]&test_type=Clinical" ref="ncbi_uid=370588">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370588" target="_blank" href="/omim/164760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=370588">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370588" ref="ncbi_uid=370588">V</a></span></span><span class="TLline"><a href="/medgen/370588" ref="tree=GTR&ncbi_uid=370588&link_uid=370588" title="View MedGen record for 'LEOPARD syndrome 2'">LEOPARD syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150971[DISCUI]&test_type=Clinical" ref="ncbi_uid=462321">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462321" target="_blank" href="/omim/164757">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=462321">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462321" ref="ncbi_uid=462321">V</a></span></span><span class="TLline"><a href="/medgen/462321" ref="tree=GTR&ncbi_uid=462321&link_uid=462321" title="View MedGen record for 'LEOPARD syndrome 3'">LEOPARD syndrome 3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4478716[DISCUI]&test_type=Clinical" ref="ncbi_uid=1379805">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1379805" target="_blank" href="/omim/602775">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1379805" ref="ncbi_uid=1379805">V</a></span></span><span class="TLline"><a href="/medgen/1379805" ref="tree=GTR&ncbi_uid=1379805&link_uid=1379805" title="View MedGen record for 'Noonan syndrome-like disorder with loose anagen hair 1'">Noonan syndrome-like disorder with loose anagen hair 1</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="matched_ds">RASopathy</span><ul><li><span class="TLline"><a href="/medgen/334007" ref="tree=MeSH" title="MedGen record for Capillary malformation-arteriovenous malformation syndrome">Capillary malformation-arteriovenous malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/266149" ref="tree=MeSH" title="MedGen record for Cardio-facio-cutaneous syndrome">Cardio-facio-cutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/852267" ref="tree=MeSH" title="MedGen record for Cardiofaciocutaneous syndrome 1">Cardiofaciocutaneous syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/108454" ref="tree=MeSH" title="MedGen record for Costello syndrome">Costello syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1647111" ref="tree=MeSH" title="MedGen record for Fibromatosis, gingival, 1">Fibromatosis, gingival, 1</a></span></li><li><span class="TLline"><a href="/medgen/138109" ref="tree=MeSH" title="MedGen record for Juvenile myelomonocytic leukemia">Juvenile myelomonocytic leukemia</a></span></li><li><span class="TLline"><a href="/medgen/370709" ref="tree=MeSH" title="MedGen record for Legius syndrome">Legius syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98377" ref="tree=MeSH" title="MedGen record for Metachondromatosis">Metachondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/18013" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 1">Neurofibromatosis, type 1</a></span><ul><li><span class="TLline"><a href="/medgen/1726802" ref="tree=MeSH" title="MedGen record for Chromosome 17q11.2 deletion syndrome, 1.4Mb">Chromosome 17q11.2 deletion syndrome, 1.4Mb</a></span></li><li><span class="TLline"><a href="/medgen/1842855" ref="tree=MeSH" title="MedGen record for Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion">Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</a></span></li><li><span class="TLline"><a href="/medgen/1643872" ref="tree=MeSH" title="MedGen record for Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas">Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas</a></span></li><li><span class="TLline"><a href="/medgen/1668269" ref="tree=MeSH" title="MedGen record for Recurrent Neurofibromatosis Type 1">Recurrent Neurofibromatosis Type 1</a></span></li><li><span class="TLline"><a href="/medgen/1656136" ref="tree=MeSH" title="MedGen record for Refractory Neurofibromatosis Type 1">Refractory Neurofibromatosis Type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1638960" ref="tree=MeSH" title="MedGen record for Noonan syndrome 1">Noonan syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/344290" ref="tree=MeSH" title="MedGen record for Noonan syndrome 2">Noonan syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349931" ref="tree=MeSH" title="MedGen record for Noonan syndrome 3">Noonan syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/339908" ref="tree=MeSH" title="MedGen record for Noonan syndrome 4">Noonan syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/370589" ref="tree=MeSH" title="MedGen record for Noonan syndrome 5">Noonan syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413028" ref="tree=MeSH" title="MedGen record for Noonan syndrome 6">Noonan syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462320" ref="tree=MeSH" title="MedGen record for Noonan syndrome 7">Noonan syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/815563" ref="tree=MeSH" title="MedGen record for Noonan syndrome 8">Noonan syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/896352" ref="tree=MeSH" title="MedGen record for Noonan syndrome 9">Noonan syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/902892" ref="tree=MeSH" title="MedGen record for Noonan syndrome 10">Noonan syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1681177" ref="tree=MeSH" title="MedGen record for Noonan syndrome 11">Noonan syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/1684730" ref="tree=MeSH" title="MedGen record for Noonan syndrome 12">Noonan syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/1761918" ref="tree=MeSH" title="MedGen record for Noonan syndrome 13">Noonan syndrome 13</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span><ul><li><span class="TLline"><a href="/medgen/1631694" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 1">LEOPARD syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/370588" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 2">LEOPARD syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/462321" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 3">LEOPARD syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/334697" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair">Noonan syndrome-like disorder with loose anagen hair</a></span><ul><li><span class="TLline"><a href="/medgen/1379805" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair 1">Noonan syndrome-like disorder with loose anagen hair 1</a></span></li><li><span class="TLline"><a href="/medgen/1376945" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair 2">Noonan syndrome-like disorder with loose anagen hair 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/32022400">Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Linglart L,
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Gelb BD</span><br />
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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2020 Mar;184(1):73-80.
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Epub 2020 Feb 5
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doi: 10.1002/ajmg.c.31765.
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<span class="bold">PMID: </span><a href="/pubmed/32022400" target="_blank">32022400</a><a href="/pmc/articles/PMC7682536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31582003">The Diagnosis and Management of Neurofibromatosis Type 1.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ly KI,
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Blakeley JO</span><br />
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<span class="medgenPMjournal">Med Clin North Am</span>
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2019 Nov;103(6):1035-1054.
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doi: 10.1016/j.mcna.2019.07.004.
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<span class="bold">PMID: </span><a href="/pubmed/31582003" target="_blank">31582003</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31222966">Costello syndrome: Clinical phenotype, genotype, and management guidelines.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gripp KW,
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Morse LA,
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Axelrad M,
|
||
Chatfield KC,
|
||
Chidekel A,
|
||
Dobyns W,
|
||
Doyle D,
|
||
Kerr B,
|
||
Lin AE,
|
||
Schwartz DD,
|
||
Sibbles BJ,
|
||
Siegel D,
|
||
Shankar SP,
|
||
Stevenson DA,
|
||
Thacker MM,
|
||
Weaver KN,
|
||
White SM,
|
||
Rauen KA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Sep;179(9):1725-1744.
|
||
Epub 2019 Jun 20
|
||
doi: 10.1002/ajmg.a.61270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31222966" target="_blank">31222966</a><a href="/pmc/articles/PMC8238015" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rasopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (24)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38602868">RASopathies for Radiologists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Handa A,
|
||
Tsujioka Y,
|
||
Nishimura G,
|
||
Nozaki T,
|
||
Kono T,
|
||
Jinzaki M,
|
||
Harms T,
|
||
Connolly SA,
|
||
Sato TS,
|
||
Sato Y</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2024 May;44(5):e230153.
|
||
doi: 10.1148/rg.230153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38602868" target="_blank">38602868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36461161">Bone health in RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stevenson DA,
|
||
Viscogliosi G,
|
||
Leoni C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Dec;190(4):459-470.
|
||
Epub 2022 Dec 2
|
||
doi: 10.1002/ajmg.c.32020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36461161" target="_blank">36461161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36428239">Clinical overview on RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zenker M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Dec;190(4):414-424.
|
||
Epub 2022 Nov 25
|
||
doi: 10.1002/ajmg.c.32015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36428239" target="_blank">36428239</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35178568">The RASopathies: from pathogenetics to therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hebron KE,
|
||
Hernandez ER,
|
||
Yohe ME</span><br />
|
||
<span class="medgenPMjournal">Dis Model Mech</span>
|
||
2022 Feb 1;15(2)
|
||
Epub 2022 Feb 18
|
||
doi: 10.1242/dmm.049107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35178568" target="_blank">35178568</a><a href="/pmc/articles/PMC8862741" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32164556">Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Athota JP,
|
||
Bhat M,
|
||
Nampoothiri S,
|
||
Gowrishankar K,
|
||
Narayanachar SG,
|
||
Puttamallesh V,
|
||
Farooque MO,
|
||
Shetty S</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Mar 12;21(1):50.
|
||
doi: 10.1186/s12881-020-0986-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32164556" target="_blank">32164556</a><a href="/pmc/articles/PMC7068896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RASopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (169)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34776080">Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lioncino M,
|
||
Monda E,
|
||
Verrillo F,
|
||
Moscarella E,
|
||
Calcagni G,
|
||
Drago F,
|
||
Marino B,
|
||
Digilio MC,
|
||
Putotto C,
|
||
Calabrò P,
|
||
Russo MG,
|
||
Roberts AE,
|
||
Gelb BD,
|
||
Tartaglia M,
|
||
Limongelli G</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2022 Jan;18(1):19-29.
|
||
Epub 2021 Oct 25
|
||
doi: 10.1016/j.hfc.2021.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34776080" target="_blank">34776080</a><a href="/pmc/articles/PMC9674037" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275756">Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Lasho TL</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2020 Dec 4;2020(1):450-459.
|
||
doi: 10.1182/hematology.2020000130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275756" target="_blank">33275756</a><a href="/pmc/articles/PMC7727543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32164556">Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Athota JP,
|
||
Bhat M,
|
||
Nampoothiri S,
|
||
Gowrishankar K,
|
||
Narayanachar SG,
|
||
Puttamallesh V,
|
||
Farooque MO,
|
||
Shetty S</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Mar 12;21(1):50.
|
||
doi: 10.1186/s12881-020-0986-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32164556" target="_blank">32164556</a><a href="/pmc/articles/PMC7068896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32022400">Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linglart L,
|
||
Gelb BD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2020 Mar;184(1):73-80.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1002/ajmg.c.31765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32022400" target="_blank">32022400</a><a href="/pmc/articles/PMC7682536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31582003">The Diagnosis and Management of Neurofibromatosis Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ly KI,
|
||
Blakeley JO</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2019 Nov;103(6):1035-1054.
|
||
doi: 10.1016/j.mcna.2019.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31582003" target="_blank">31582003</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RASopathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (190)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38520002">Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alesi V,
|
||
Genovese S,
|
||
Roberti MC,
|
||
Sallicandro E,
|
||
Di Tommaso S,
|
||
Loddo S,
|
||
Orlando V,
|
||
Pompili D,
|
||
Calacci C,
|
||
Mei V,
|
||
Pisaneschi E,
|
||
Faggiano MV,
|
||
Morgia A,
|
||
Mammì C,
|
||
Astrea G,
|
||
Battini R,
|
||
Priolo M,
|
||
Dentici ML,
|
||
Milone R,
|
||
Novelli A</span><br />
|
||
<span class="medgenPMjournal">Hum Genomics</span>
|
||
2024 Mar 22;18(1):29.
|
||
doi: 10.1186/s40246-024-00600-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38520002" target="_blank">38520002</a><a href="/pmc/articles/PMC10960460" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38432396">MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaput D,
|
||
Andelfinger G</span><br />
|
||
<span class="medgenPMjournal">Can J Cardiol</span>
|
||
2024 May;40(5):789-799.
|
||
Epub 2024 Mar 1
|
||
doi: 10.1016/j.cjca.2024.02.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38432396" target="_blank">38432396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33395032">MEK inhibitors in RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergqvist C,
|
||
Wolkenstein P</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Oncol</span>
|
||
2021 Mar 1;33(2):110-119.
|
||
doi: 10.1097/CCO.0000000000000711.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33395032" target="_blank">33395032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32650362">Preventative Effect of Mebendazole against Malignancies in Neurofibromatosis 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staedtke V,
|
||
Gray-Bethke T,
|
||
Riggins GJ,
|
||
Bai RY</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2020 Jul 8;11(7)
|
||
doi: 10.3390/genes11070762.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32650362" target="_blank">32650362</a><a href="/pmc/articles/PMC7397152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28349408">Cancer of the Peripheral Nerve in Neurofibromatosis Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staedtke V,
|
||
Bai RY,
|
||
Blakeley JO</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2017 Apr;14(2):298-306.
|
||
doi: 10.1007/s13311-017-0518-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28349408" target="_blank">28349408</a><a href="/pmc/articles/PMC5398990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RASopathy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34776080">Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lioncino M,
|
||
Monda E,
|
||
Verrillo F,
|
||
Moscarella E,
|
||
Calcagni G,
|
||
Drago F,
|
||
Marino B,
|
||
Digilio MC,
|
||
Putotto C,
|
||
Calabrò P,
|
||
Russo MG,
|
||
Roberts AE,
|
||
Gelb BD,
|
||
Tartaglia M,
|
||
Limongelli G</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2022 Jan;18(1):19-29.
|
||
Epub 2021 Oct 25
|
||
doi: 10.1016/j.hfc.2021.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34776080" target="_blank">34776080</a><a href="/pmc/articles/PMC9674037" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33673806">Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hathaway J,
|
||
Heliö K,
|
||
Saarinen I,
|
||
Tallila J,
|
||
Seppälä EH,
|
||
Tuupanen S,
|
||
Turpeinen H,
|
||
Kangas-Kontio T,
|
||
Schleit J,
|
||
Tommiska J,
|
||
Kytölä V,
|
||
Valori M,
|
||
Muona M,
|
||
Sistonen J,
|
||
Gentile M,
|
||
Salmenperä P,
|
||
Myllykangas S,
|
||
Paananen J,
|
||
Alastalo TP,
|
||
Heliö T,
|
||
Koskenvuo J</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2021 Mar 5;21(1):126.
|
||
doi: 10.1186/s12872-021-01927-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33673806" target="_blank">33673806</a><a href="/pmc/articles/PMC7934228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275756">Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Lasho TL</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2020 Dec 4;2020(1):450-459.
|
||
doi: 10.1182/hematology.2020000130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275756" target="_blank">33275756</a><a href="/pmc/articles/PMC7727543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32022400">Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linglart L,
|
||
Gelb BD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2020 Mar;184(1):73-80.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1002/ajmg.c.31765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32022400" target="_blank">32022400</a><a href="/pmc/articles/PMC7682536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24803665">Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiel C,
|
||
Serrano L</span><br />
|
||
<span class="medgenPMjournal">Mol Syst Biol</span>
|
||
2014 May 6;10(5):727.
|
||
doi: 10.1002/msb.20145092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24803665" target="_blank">24803665</a><a href="/pmc/articles/PMC4188041" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RASopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (68)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38990653">Spatial transcriptomics implicates impaired BMP signaling in NF1 fracture pseudarthrosis in murine and patient tissues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rios JJ,
|
||
Juan C,
|
||
Shelton JM,
|
||
Paria N,
|
||
Oxendine I,
|
||
Wassell M,
|
||
Kidane YH,
|
||
Cornelia R,
|
||
Jeffery EC,
|
||
Podeszwa DA,
|
||
Conway SJ,
|
||
Wise CA,
|
||
Tower RJ</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2024 Jul 11;9(16)
|
||
doi: 10.1172/jci.insight.176802.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38990653" target="_blank">38990653</a><a href="/pmc/articles/PMC11343587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33673806">Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hathaway J,
|
||
Heliö K,
|
||
Saarinen I,
|
||
Tallila J,
|
||
Seppälä EH,
|
||
Tuupanen S,
|
||
Turpeinen H,
|
||
Kangas-Kontio T,
|
||
Schleit J,
|
||
Tommiska J,
|
||
Kytölä V,
|
||
Valori M,
|
||
Muona M,
|
||
Sistonen J,
|
||
Gentile M,
|
||
Salmenperä P,
|
||
Myllykangas S,
|
||
Paananen J,
|
||
Alastalo TP,
|
||
Heliö T,
|
||
Koskenvuo J</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2021 Mar 5;21(1):126.
|
||
doi: 10.1186/s12872-021-01927-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33673806" target="_blank">33673806</a><a href="/pmc/articles/PMC7934228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32164556">Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Athota JP,
|
||
Bhat M,
|
||
Nampoothiri S,
|
||
Gowrishankar K,
|
||
Narayanachar SG,
|
||
Puttamallesh V,
|
||
Farooque MO,
|
||
Shetty S</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Mar 12;21(1):50.
|
||
doi: 10.1186/s12881-020-0986-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32164556" target="_blank">32164556</a><a href="/pmc/articles/PMC7068896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24803665">Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiel C,
|
||
Serrano L</span><br />
|
||
<span class="medgenPMjournal">Mol Syst Biol</span>
|
||
2014 May 6;10(5):727.
|
||
doi: 10.1002/msb.20145092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24803665" target="_blank">24803665</a><a href="/pmc/articles/PMC4188041" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24458522">Behavioral profile in RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alfieri P,
|
||
Piccini G,
|
||
Caciolo C,
|
||
Perrino F,
|
||
Gambardella ML,
|
||
Mallardi M,
|
||
Cesarini L,
|
||
Leoni C,
|
||
Leone D,
|
||
Fossati C,
|
||
Selicorni A,
|
||
Digilio MC,
|
||
Tartaglia M,
|
||
Mercuri E,
|
||
Zampino G,
|
||
Vicari S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Apr;164A(4):934-42.
|
||
Epub 2014 Jan 23
|
||
doi: 10.1002/ajmg.a.36374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24458522" target="_blank">24458522</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RASopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (112)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39287844">Cancer in Multilineage Mosaic RASopathies due to Pathogenic Variants in HRAS or KRAS: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Windrich J,
|
||
Ney GM,
|
||
Rosenberg PS,
|
||
Kim J,
|
||
Zenker M,
|
||
Stewart DR,
|
||
Kratz CP</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2024 Nov 15;30(22):5116-5121.
|
||
doi: 10.1158/1078-0432.CCR-24-1928.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39287844" target="_blank">39287844</a><a href="/pmc/articles/PMC11565173" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38581124">Autism spectrum disorder profiles in RASopathies: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Debbaut E,
|
||
Steyaert J,
|
||
El Bakkali M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2024 Apr;12(4):e2428.
|
||
doi: 10.1002/mgg3.2428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38581124" target="_blank">38581124</a><a href="/pmc/articles/PMC10997847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38156365">RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Makhamreh MM,
|
||
Shivashankar K,
|
||
Araji S,
|
||
Critchlow E,
|
||
O'Brien BM,
|
||
Wodoslawsky S,
|
||
Berger SI,
|
||
Al-Kouatly HB</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 May;194(5):e63494.
|
||
Epub 2023 Dec 29
|
||
doi: 10.1002/ajmg.a.63494.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38156365" target="_blank">38156365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29797062">When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scala M,
|
||
Fiaschi P,
|
||
Capra V,
|
||
Garrè ML,
|
||
Tortora D,
|
||
Ravegnani M,
|
||
Pavanello M</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2018 Jul;34(7):1311-1323.
|
||
Epub 2018 May 24
|
||
doi: 10.1007/s00381-018-3833-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29797062" target="_blank">29797062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20425820">High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gripp KW,
|
||
Hopkins E,
|
||
Doyle D,
|
||
Dobyns WB</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 May;152A(5):1161-8.
|
||
doi: 10.1002/ajmg.a.33391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20425820" target="_blank">20425820</a><a href="/pmc/articles/PMC4910816" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RASopathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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||
|
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|
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|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5555857%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C5555857%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C5555857%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5555857%5bDISCUI%5d" target="_blank">See all (33)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=536391" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=RASopathy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rasopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22RASopathy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=RASopathy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/22213/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<li>
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<a href="/pubmed/clinical?term=RASopathy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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<a href="/pubmed?term=RASopathy%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1792298" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5555857[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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