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<meta name="keywords" content="C0263925, finding, iliac crest spur, iliac horns, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=120492
|
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ConceptID=C0263925
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Iliac horns</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120492</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.">C0263925</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Iliac crest spur</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Iliac crest spur (84308008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009780">HP:0009780</a></td></tr>
|
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|
||
<div class="portlet_content ln">Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Iliac horns</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868758" ref="tree=MeSH" title="MedGen record for Abnormal appendicular skeleton morphology">Abnormal appendicular skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866545" ref="tree=MeSH" title="MedGen record for Abnormal pelvic girdle bone morphology">Abnormal pelvic girdle bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867370" ref="tree=MeSH" title="MedGen record for Abnormal hip bone morphology">Abnormal hip bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867381" ref="tree=MeSH" title="MedGen record for Abnormal ilium morphology">Abnormal ilium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/344438" ref="tree=MeSH" title="MedGen record for Irregular iliac crest">Irregular iliac crest</a></span><ul><li><span class="matched_ds">Iliac horns</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_10257"><div><strong>Nail-patella syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10257</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.">C0027341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage kidney disease occurs up to 15% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10257">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail-patella syndrome</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/27109743">Nail-patella syndrome: report of 11 pediatric cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Figueroa-Silva O,
|
||
Vicente A,
|
||
Agudo A,
|
||
Baliu-Piqué C,
|
||
Gómez-Armayones S,
|
||
Aldunce-Soto MJ,
|
||
Inarejos Clemente EJ,
|
||
Navallas Irujo M,
|
||
Gutiérrez de la Iglesia D,
|
||
González-Enseñat MA</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2016 Sep;30(9):1614-7.
|
||
Epub 2016 Apr 25
|
||
doi: 10.1111/jdv.13683.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27109743" target="_blank">27109743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18538102">Nail-patella syndrome and renal involvement. Description of three cases and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Granata A,
|
||
Nori G,
|
||
Ravazzolo R,
|
||
Marini M,
|
||
Castellino S,
|
||
Sicurezza E,
|
||
Fiore CE,
|
||
Mignani R</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2008 May;69(5):377-82.
|
||
doi: 10.5414/cnp69377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18538102" target="_blank">18538102</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12624132">Nail patella syndrome: a review of the phenotype aided by developmental biology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sweeney E,
|
||
Fryer A,
|
||
Mountford R,
|
||
Green A,
|
||
McIntosh I</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2003 Mar;40(3):153-62.
|
||
doi: 10.1136/jmg.40.3.153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12624132" target="_blank">12624132</a><a href="/pmc/articles/PMC1735400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12488765">Nail-patella syndrome: long term evolution.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beguiristáin JL,
|
||
de Rada PD,
|
||
Barriga A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2003 Jan;12(1):13-6.
|
||
doi: 10.1097/01.bpb.0000043727.21564.e9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12488765" target="_blank">12488765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9781042">Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Melchionda S,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iliac%20horns%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32898401">Nail-patella syndrome: "nailing" the diagnosis in three generations.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28335748">Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nakata T,
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<div class="nl"><a target="_blank" href="/pubmed/16807765">Steroid-responsive nephrotic syndrome in a patient with nail-patella syndrome.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iliac%20horns%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
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Epub 2020 May 26
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doi: 10.1038/s41431-020-0655-3.
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<span class="bold">PMID: </span><a href="/pubmed/32457516" target="_blank">32457516</a><a href="/pmc/articles/PMC7608088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28335748">Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakata T,
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Ishida R,
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Mihara Y,
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Fujii A,
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Inoue Y,
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Kusaba T,
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Isojima T,
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Harita Y,
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Kanda C,
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Kitanaka S,
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Tamagaki K</span><br />
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2017 Mar 23;18(1):100.
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doi: 10.1186/s12882-017-0516-7.
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<span class="bold">PMID: </span><a href="/pubmed/28335748" target="_blank">28335748</a><a href="/pmc/articles/PMC5363042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27450397">Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Harita Y,
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Kitanaka S,
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Isojima T,
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Ashida A,
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Hattori M</span><br />
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<span class="medgenPMjournal">Pediatr Nephrol</span>
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2017 Oct;32(10):1845-1850.
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Epub 2016 Jul 23
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doi: 10.1007/s00467-016-3462-x.
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<span class="bold">PMID: </span><a href="/pubmed/27450397" target="_blank">27450397</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24029584">Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/24029584" target="_blank">24029584</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12488765">Nail-patella syndrome: long term evolution.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beguiristáin JL,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iliac%20horns%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Andeen NK,
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<span class="bold">PMID: </span><a href="/pubmed/29246420" target="_blank">29246420</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/27109743">Nail-patella syndrome: report of 11 pediatric cases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Figueroa-Silva O,
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Vicente A,
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Agudo A,
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||
<div class="nl"><a target="_blank" href="/pubmed/19194568">Clinico-genetic study of nail-patella syndrome.</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/10836702">Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Goshen E,
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Schwartz A,
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||
<div class="nl"><a target="_blank" href="/pubmed/9742578">Ultrasound prenatal diagnosis of the Nail-Patella syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Feingold M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iliac%20horns%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 (7)</a></div></div>
|
||
</div>
|
||
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|
||
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|
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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||
</div>
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