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<meta name="keywords" content="C2675867, cild10, ciliary dyskinesia, primary, 10, ciliary dyskinesia, primary, 10, with or without situs inversus, ciliary dyskinesia, primary, type 10, disease or syndrome, dnaaf2, dnaaf2 primary ciliary dyskinesia, primary ciliary dyskinesia 10, primary ciliary dyskinesia 10 with or without situs inversus, primary ciliary dyskinesia caused by mutation in dnaaf2, primary ciliary dyskinesia type 10, primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia, 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="Primary ciliary dyskinesia-10 (CILD10) is characterized by recurrent respiratory tract infections, sinusitis, otitis media, and bronchiectasis. Situs inversus may be present. Infertility in affected males results from immotile sperm (Omran et al., 2008, Sun et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=382707
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ConceptID=C2675867
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1122/bin/pcd-Image001.gif" src-large="/books/NBK1122/bin/pcd-Image001.jpg" /></a><br /><a href="/books/NBK1122/figure/pcd.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Primary ciliary dyskinesia 10<span class="h1sub">(CILD10)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382707</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.">C2675867</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>CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia10: DNAAF2-Related Primary Ciliary Dyskinesia</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="DNAAF2 - ID: 55172 - NCBI Gene" href="/gene/55172" class="medgenPMinfo">DNAAF2</a> (14q21.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012918" target="_blank">MONDO:0012918</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612518" target="_blank">612518</a></td></tr>
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<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>
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||
<div class="portlet_content ln">Primary ciliary dyskinesia-10 (CILD10) is characterized by recurrent respiratory tract infections, sinusitis, otitis media, and bronchiectasis. Situs inversus may be present. Infertility in affected males results from immotile sperm (Omran et al., 2008, Sun et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.<br /><br />In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.<br /><br />Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.<br /><br />Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.<br /><br />Primary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.<br /><br />Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.<br /><br />Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain. <a target="_blank" href="https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia">https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia</a></div></div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1642262"><div><strong>Situs inversus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642262</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.">C4551493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642262">Feature record</a> | <a href="/medgen?term=%22Situs%20inversus%22%5BClinical%20Features%5D%20OR%201642262%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3467"><div><strong>Primary ciliary dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3467</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.">C0008780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3467">Feature record</a> | <a href="/medgen?term=%22Primary%20ciliary%20dyskinesia%22%5BClinical%20Features%5D%20OR%203467%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107919"><div><strong>Recurrent sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107919</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.">C0581354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A recurrent form of sinusitis.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/107919">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinusitis%22%5BClinical%20Features%5D%20OR%20107919%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_870646"><div><strong>Abnormal respiratory motile cilium morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870646</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.">C4025100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormal arrangement of the structures of the motile cilium.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/870646">Feature record</a> | <a href="/medgen?term=%22Abnormal%20respiratory%20motile%20cilium%20morphology%22%5BClinical%20Features%5D%20OR%20870646%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_101751"><div><strong>Chronic sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101751</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.">C0149516</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic form of sinusitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101751">Feature record</a> | <a href="/medgen?term=%22Chronic%20sinusitis%22%5BClinical%20Features%5D%20OR%20101751%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75751"><div><strong>Chronic otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75751</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.">C0271441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75751">Feature record</a> | <a href="/medgen?term=%22Chronic%20otitis%20media%22%5BClinical%20Features%5D%20OR%2075751%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Situs inversus</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic otitis media</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic sinusitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal respiratory motile cilium morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3467" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinusitis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_118">
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||
<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>
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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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0008780[DISCUI]&test_type=Clinical" ref="ncbi_uid=3467">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0008780[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=3467">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=3467">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=3467" ref="ncbi_uid=3467">V</a></span></span><span class="TLline"><a href="/medgen/3467" ref="tree=GTR&ncbi_uid=3467&link_uid=3467" title="View MedGen record for 'Primary ciliary dyskinesia'">Primary ciliary dyskinesia</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=C4478372[DISCUI]&test_type=Clinical" ref="ncbi_uid=1393107">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1393107" target="_blank" href="/omim/300933">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=1393107" ref="ncbi_uid=1393107">V</a></span></span><span class="TLline"><a href="/medgen/1393107" ref="tree=GTR&ncbi_uid=1393107&link_uid=1393107" title="View MedGen record for 'Ciliary dyskinesia, primary, 36, X-linked'">Ciliary dyskinesia, primary, 36, X-linked</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=C4539798[DISCUI]&test_type=Clinical" ref="ncbi_uid=1615746">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1615746" target="_blank" href="/omim/603332">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=1615746" ref="ncbi_uid=1615746">V</a></span></span><span class="TLline"><a href="/medgen/1615746" ref="tree=GTR&ncbi_uid=1615746&link_uid=1615746" title="View MedGen record for 'Ciliary dyskinesia, primary, 37'">Ciliary dyskinesia, primary, 37</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=C4748052[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648465">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648465" target="_blank" href="/omim/618058">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=1648465" ref="ncbi_uid=1648465">V</a></span></span><span class="TLline"><a href="/medgen/1648465" ref="tree=GTR&ncbi_uid=1648465&link_uid=1648465" title="View MedGen record for 'Ciliary dyskinesia, primary, 38'">Ciliary dyskinesia, primary, 38</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=C4551906[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646059">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646059" target="_blank" href="/omim/244400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=1646059">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646059" ref="ncbi_uid=1646059">V</a></span></span><span class="TLline"><a href="/medgen/1646059" ref="tree=GTR&ncbi_uid=1646059&link_uid=1646059" title="View MedGen record for 'Kartagener syndrome'">Kartagener 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=C1847554[DISCUI]&test_type=Clinical" ref="ncbi_uid=338258">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338258" target="_blank" href="/omim/606763">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=338258">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338258" ref="ncbi_uid=338258">V</a></span></span><span class="TLline"><a href="/medgen/338258" ref="tree=GTR&ncbi_uid=338258&link_uid=338258" title="View MedGen record for 'Primary ciliary dyskinesia 2'">Primary ciliary dyskinesia 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=C1837618[DISCUI]&test_type=Clinical" ref="ncbi_uid=325210">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325210" target="_blank" href="/omim/603335">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=325210">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325210" ref="ncbi_uid=325210">V</a></span></span><span class="TLline"><a href="/medgen/325210" ref="tree=GTR&ncbi_uid=325210&link_uid=325210" title="View MedGen record for 'Primary ciliary dyskinesia 3'">Primary ciliary dyskinesia 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=C1837616[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=324841">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324841" target="_blank" href="/omim/608646">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=324841">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324841" ref="tree=GTR&ncbi_uid=324841&link_uid=324841" title="View MedGen record for 'Primary ciliary dyskinesia 4'">Primary ciliary dyskinesia 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=C1837615[DISCUI]&test_type=Clinical" ref="ncbi_uid=324840">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324840" target="_blank" href="/omim/608647">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=324840">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324840" ref="ncbi_uid=324840">V</a></span></span><span class="TLline"><a href="/medgen/324840" ref="tree=GTR&ncbi_uid=324840&link_uid=324840" title="View MedGen record for 'Primary ciliary dyskinesia 5'">Primary ciliary dyskinesia 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=C1970506[DISCUI]&test_type=Clinical" ref="ncbi_uid=370930">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370930" target="_blank" href="/omim/607421">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=370930">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370930" ref="ncbi_uid=370930">V</a></span></span><span class="TLline"><a href="/medgen/370930" ref="tree=GTR&ncbi_uid=370930&link_uid=370930" title="View MedGen record for 'Primary ciliary dyskinesia 6'">Primary ciliary dyskinesia 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=C2678473[DISCUI]&test_type=Clinical" ref="ncbi_uid=394834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394834" target="_blank" href="/omim/603339">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=394834">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394834" ref="ncbi_uid=394834">V</a></span></span><span class="TLline"><a href="/medgen/394834" ref="tree=GTR&ncbi_uid=394834&link_uid=394834" title="View MedGen record for 'Primary ciliary dyskinesia 7'">Primary ciliary dyskinesia 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=C2677085[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=393653">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393653" target="_blank" href="/omim/612274">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=393653">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/393653" ref="tree=GTR&ncbi_uid=393653&link_uid=393653" title="View MedGen record for 'Primary ciliary dyskinesia 8'">Primary ciliary dyskinesia 8</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=C2676235[DISCUI]&test_type=Clinical" ref="ncbi_uid=390990">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390990" target="_blank" href="/omim/605483">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=390990">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390990" ref="ncbi_uid=390990">V</a></span></span><span class="TLline"><a href="/medgen/390990" ref="tree=GTR&ncbi_uid=390990&link_uid=390990" title="View MedGen record for 'Primary ciliary dyskinesia 9'">Primary ciliary dyskinesia 9</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675867[DISCUI]&test_type=Clinical" ref="ncbi_uid=382707">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382707" target="_blank" href="/omim/612517">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=382707">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382707" ref="ncbi_uid=382707">V</a></span></span><span class="TLline">Primary ciliary dyskinesia 10</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675229[DISCUI]&test_type=Clinical" ref="ncbi_uid=390741">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390741" target="_blank" href="/omim/612647">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=390741">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390741" ref="ncbi_uid=390741">V</a></span></span><span class="TLline"><a href="/medgen/390741" ref="tree=GTR&ncbi_uid=390741&link_uid=390741" title="View MedGen record for 'Primary ciliary dyskinesia 11'">Primary ciliary dyskinesia 11</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=C2675228[DISCUI]&test_type=Clinical" ref="ncbi_uid=436379">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436379" target="_blank" href="/omim/612648">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=436379">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436379" ref="ncbi_uid=436379">V</a></span></span><span class="TLline"><a href="/medgen/436379" ref="tree=GTR&ncbi_uid=436379&link_uid=436379" title="View MedGen record for 'Primary ciliary dyskinesia 12'">Primary ciliary dyskinesia 12</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=C2750790[DISCUI]&test_type=Clinical" ref="ncbi_uid=413399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413399" target="_blank" href="/omim/613190">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=413399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413399" ref="ncbi_uid=413399">V</a></span></span><span class="TLline"><a href="/medgen/413399" ref="tree=GTR&ncbi_uid=413399&link_uid=413399" title="View MedGen record for 'Primary ciliary dyskinesia 13'">Primary ciliary dyskinesia 13</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=C3151136[DISCUI]&test_type=Clinical" ref="ncbi_uid=462486">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462486" target="_blank" href="/omim/613798">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=462486">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462486" ref="ncbi_uid=462486">V</a></span></span><span class="TLline"><a href="/medgen/462486" ref="tree=GTR&ncbi_uid=462486&link_uid=462486" title="View MedGen record for 'Primary ciliary dyskinesia 14'">Primary ciliary dyskinesia 14</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=C3151137[DISCUI]&test_type=Clinical" ref="ncbi_uid=462487">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462487" target="_blank" href="/omim/613799">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=462487">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462487" ref="ncbi_uid=462487">V</a></span></span><span class="TLline"><a href="/medgen/462487" ref="tree=GTR&ncbi_uid=462487&link_uid=462487" title="View MedGen record for 'Primary ciliary dyskinesia 15'">Primary ciliary dyskinesia 15</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=C3151460[DISCUI]&test_type=Clinical" ref="ncbi_uid=462810">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462810" target="_blank" href="/omim/610062">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=462810">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462810" ref="ncbi_uid=462810">V</a></span></span><span class="TLline"><a href="/medgen/462810" ref="tree=GTR&ncbi_uid=462810&link_uid=462810" title="View MedGen record for 'Primary ciliary dyskinesia 16'">Primary ciliary dyskinesia 16</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=C3542550[DISCUI]&test_type=Clinical" ref="ncbi_uid=762261">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762261" target="_blank" href="/omim/614677">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=762261">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762261" ref="ncbi_uid=762261">V</a></span></span><span class="TLline"><a href="/medgen/762261" ref="tree=GTR&ncbi_uid=762261&link_uid=762261" title="View MedGen record for 'Primary ciliary dyskinesia 17'">Primary ciliary dyskinesia 17</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=C3543825[DISCUI]&test_type=Clinical" ref="ncbi_uid=762331">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762331" target="_blank" href="/omim/614864">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=762331">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762331" ref="ncbi_uid=762331">V</a></span></span><span class="TLline"><a href="/medgen/762331" ref="tree=GTR&ncbi_uid=762331&link_uid=762331" title="View MedGen record for 'Primary ciliary dyskinesia 18'">Primary ciliary dyskinesia 18</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=C3543826[DISCUI]&test_type=Clinical" ref="ncbi_uid=762332">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762332" target="_blank" href="/omim/614930">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=762332">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762332" ref="ncbi_uid=762332">V</a></span></span><span class="TLline"><a href="/medgen/762332" ref="tree=GTR&ncbi_uid=762332&link_uid=762332" title="View MedGen record for 'Primary ciliary dyskinesia 19'">Primary ciliary dyskinesia 19</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=C3540844[DISCUI]&test_type=Clinical" ref="ncbi_uid=761920">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761920" target="_blank" href="/omim/615038">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=761920">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761920" ref="ncbi_uid=761920">V</a></span></span><span class="TLline"><a href="/medgen/761920" ref="tree=GTR&ncbi_uid=761920&link_uid=761920" title="View MedGen record for 'Primary ciliary dyskinesia 20'">Primary ciliary dyskinesia 20</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=C3809087[DISCUI]&test_type=Clinical" ref="ncbi_uid=815417">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815417" target="_blank" href="/omim/615288">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815417">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815417" ref="ncbi_uid=815417">V</a></span></span><span class="TLline"><a href="/medgen/815417" ref="tree=GTR&ncbi_uid=815417&link_uid=815417" title="View MedGen record for 'Primary ciliary dyskinesia 21'">Primary ciliary dyskinesia 21</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=C3809543[DISCUI]&test_type=Clinical" ref="ncbi_uid=815873">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815873" target="_blank" href="/omim/607070">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815873">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815873" ref="ncbi_uid=815873">V</a></span></span><span class="TLline"><a href="/medgen/815873" ref="tree=GTR&ncbi_uid=815873&link_uid=815873" title="View MedGen record for 'Primary ciliary dyskinesia 22'">Primary ciliary dyskinesia 22</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=C3809548[DISCUI]&test_type=Clinical" ref="ncbi_uid=815878">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815878" target="_blank" href="/omim/615408">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815878">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815878" ref="ncbi_uid=815878">V</a></span></span><span class="TLline"><a href="/medgen/815878" ref="tree=GTR&ncbi_uid=815878&link_uid=815878" title="View MedGen record for 'Primary ciliary dyskinesia 23'">Primary ciliary dyskinesia 23</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=C3809634[DISCUI]&test_type=Clinical" ref="ncbi_uid=815964">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815964" target="_blank" href="/omim/609314">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815964">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815964" ref="ncbi_uid=815964">V</a></span></span><span class="TLline"><a href="/medgen/815964" ref="tree=GTR&ncbi_uid=815964&link_uid=815964" title="View MedGen record for 'Primary ciliary dyskinesia 24'">Primary ciliary dyskinesia 24</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=C3809641[DISCUI]&test_type=Clinical" ref="ncbi_uid=815971">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815971" target="_blank" href="/omim/608706">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815971">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815971" ref="ncbi_uid=815971">V</a></span></span><span class="TLline"><a href="/medgen/815971" ref="tree=GTR&ncbi_uid=815971&link_uid=815971" title="View MedGen record for 'Primary ciliary dyskinesia 25'">Primary ciliary dyskinesia 25</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=C3809684[DISCUI]&test_type=Clinical" ref="ncbi_uid=816014">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816014" target="_blank" href="/omim/615500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=816014">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816014" ref="ncbi_uid=816014">V</a></span></span><span class="TLline"><a href="/medgen/816014" ref="tree=GTR&ncbi_uid=816014&link_uid=816014" title="View MedGen record for 'Primary ciliary dyskinesia 26'">Primary ciliary dyskinesia 26</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=C3809701[DISCUI]&test_type=Clinical" ref="ncbi_uid=816031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816031" target="_blank" href="/omim/611088">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=816031">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816031" ref="ncbi_uid=816031">V</a></span></span><span class="TLline"><a href="/medgen/816031" ref="tree=GTR&ncbi_uid=816031&link_uid=816031" title="View MedGen record for 'Primary ciliary dyskinesia 27'">Primary ciliary dyskinesia 27</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=C3809706[DISCUI]&test_type=Clinical" ref="ncbi_uid=816036">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816036" target="_blank" href="/omim/603395">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=816036">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816036" ref="ncbi_uid=816036">V</a></span></span><span class="TLline"><a href="/medgen/816036" ref="tree=GTR&ncbi_uid=816036&link_uid=816036" title="View MedGen record for 'Primary ciliary dyskinesia 28'">Primary ciliary dyskinesia 28</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=C4014534[DISCUI]&test_type=Clinical" ref="ncbi_uid=862971">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862971" target="_blank" href="/omim/607752">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=862971">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=862971" ref="ncbi_uid=862971">V</a></span></span><span class="TLline"><a href="/medgen/862971" ref="tree=GTR&ncbi_uid=862971&link_uid=862971" title="View MedGen record for 'Primary ciliary dyskinesia 29'">Primary ciliary dyskinesia 29</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=C4015016[DISCUI]&test_type=Clinical" ref="ncbi_uid=863453">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863453" target="_blank" href="/omim/615956">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=863453">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863453" ref="ncbi_uid=863453">V</a></span></span><span class="TLline"><a href="/medgen/863453" ref="tree=GTR&ncbi_uid=863453&link_uid=863453" title="View MedGen record for 'Primary ciliary dyskinesia 30'">Primary ciliary dyskinesia 30</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=C4225311[DISCUI]&test_type=Clinical" ref="ncbi_uid=896106">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=896106" target="_blank" href="/omim/615876">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=896106" ref="ncbi_uid=896106">V</a></span></span><span class="TLline"><a href="/medgen/896106" ref="tree=GTR&ncbi_uid=896106&link_uid=896106" title="View MedGen record for 'Primary ciliary dyskinesia 32'">Primary ciliary dyskinesia 32</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=C4225230[DISCUI]&test_type=Clinical" ref="ncbi_uid=898734">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=898734" target="_blank" href="/omim/605178">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=898734" ref="ncbi_uid=898734">V</a></span></span><span class="TLline"><a href="/medgen/898734" ref="tree=GTR&ncbi_uid=898734&link_uid=898734" title="View MedGen record for 'Primary ciliary dyskinesia 33'">Primary ciliary dyskinesia 33</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=C4310722[DISCUI]&test_type=Clinical" ref="ncbi_uid=934689">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934689" target="_blank" href="/omim/610263">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=934689" ref="ncbi_uid=934689">V</a></span></span><span class="TLline"><a href="/medgen/934689" ref="tree=GTR&ncbi_uid=934689&link_uid=934689" title="View MedGen record for 'Primary ciliary dyskinesia 34'">Primary ciliary dyskinesia 34</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=C4310721[DISCUI]&test_type=Clinical" ref="ncbi_uid=934688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934688" target="_blank" href="/omim/617092">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=934688" ref="ncbi_uid=934688">V</a></span></span><span class="TLline"><a href="/medgen/934688" ref="tree=GTR&ncbi_uid=934688&link_uid=934688" title="View MedGen record for 'Primary ciliary dyskinesia 35'">Primary ciliary dyskinesia 35</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=C1855705[DISCUI]&test_type=Clinical" ref="ncbi_uid=340938">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340938" target="_blank" href="/omim/243605">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK586170/" ref="ncbi_uid=340938">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340938" ref="ncbi_uid=340938">V</a></span></span><span class="TLline"><a href="/medgen/340938" ref="tree=GTR&ncbi_uid=340938&link_uid=340938" title="View MedGen record for 'Stromme syndrome'">Stromme syndrome</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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868585" ref="tree=MeSH" title="MedGen record for Abnormal respiratory motile cilium physiology">Abnormal respiratory motile cilium physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868584" ref="tree=MeSH" title="MedGen record for Abnormal ciliary motility">Abnormal ciliary motility</a></span><ul><li><span class="TLline"><a href="/medgen/3467" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></span><ul><li><span class="matched_ds">Primary ciliary dyskinesia 10</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/36069395">Progress in diagnosis of primary ciliary dyskinesia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wei S,
|
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Xie H,
|
||
Cheng Y</span><br />
|
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<span class="medgenPMjournal">J Paediatr Child Health</span>
|
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2022 Oct;58(10):1736-1740.
|
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Epub 2022 Sep 7
|
||
doi: 10.1111/jpc.16196.
|
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<span class="bold">PMID: </span><a href="/pubmed/36069395" target="_blank">36069395</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/35613658">Inhaled delivery of a lipid nanoparticle encapsulated messenger RNA encoding a ciliary protein for the treatment of primary ciliary dyskinesia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Woo CJ,
|
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Allawzi A,
|
||
Clark N,
|
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Kaushal N,
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||
Efthymiou T,
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Thamsen M,
|
||
Nguyen J,
|
||
Wooster R,
|
||
Sullivan JC</span><br />
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<span class="medgenPMjournal">Pulm Pharmacol Ther</span>
|
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2022 Aug;75:102134.
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Epub 2022 May 22
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doi: 10.1016/j.pupt.2022.102134.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35613658" target="_blank">35613658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28745925">Clinical care of children with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas JS,
|
||
Alanin MC,
|
||
Collins S,
|
||
Harris A,
|
||
Johansen HK,
|
||
Nielsen KG,
|
||
Papon JF,
|
||
Robinson P,
|
||
Walker WT</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2017 Oct;11(10):779-790.
|
||
Epub 2017 Aug 2
|
||
doi: 10.1080/17476348.2017.1360770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28745925" target="_blank">28745925</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(primary%20ciliary%20dyskinesia%2010)%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 (50)</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/38880279">Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ewen R,
|
||
Pink I,
|
||
Sutharsan S,
|
||
Aries SP,
|
||
Grünewaldt A,
|
||
Shoemark A,
|
||
Sommerwerck U,
|
||
Staar BO,
|
||
Wege S,
|
||
Mertsch P,
|
||
Rademacher J,
|
||
Ringshausen FC;
|
||
PROGNOSIS Study Group</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2024 Nov;166(5):938-950.
|
||
Epub 2024 Jun 15
|
||
doi: 10.1016/j.chest.2024.05.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38880279" target="_blank">38880279</a><a href="/pmc/articles/PMC11562653" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28620746">Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruechle NO,
|
||
Steuernagel P,
|
||
Zerres K,
|
||
Kurth I,
|
||
Eggermann T,
|
||
Knopp C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2017 Oct;32(10):1989-1992.
|
||
Epub 2017 Jun 15
|
||
doi: 10.1007/s00467-017-3710-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28620746" target="_blank">28620746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26967669">Primary ciliary dyskinesia and associated sensory ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horani A,
|
||
Ferkol TW</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2016;10(5):569-76.
|
||
Epub 2016 Mar 28
|
||
doi: 10.1586/17476348.2016.1165612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26967669" target="_blank">26967669</a><a href="/pmc/articles/PMC4893162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24322779">Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barker AR,
|
||
Thomas R,
|
||
Dawe HR</span><br />
|
||
<span class="medgenPMjournal">Organogenesis</span>
|
||
2014 Jan 1;10(1):96-107.
|
||
Epub 2013 Dec 9
|
||
doi: 10.4161/org.27375.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24322779" target="_blank">24322779</a><a href="/pmc/articles/PMC4049900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2010%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 (150)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38848546">The expanding clinical and genetic spectrum of DYNC1H1-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Möller B,
|
||
Becker LL,
|
||
Saffari A,
|
||
Afenjar A,
|
||
Coci EG,
|
||
Williamson R,
|
||
Ward-Melver C,
|
||
Gibaud M,
|
||
Sedláčková L,
|
||
Laššuthová P,
|
||
Libá Z,
|
||
Vlčková M,
|
||
William N,
|
||
Klee EW,
|
||
Gavrilova RH,
|
||
Lévy J,
|
||
Capri Y,
|
||
Scavina M,
|
||
Körner RW,
|
||
Valivullah Z,
|
||
Weiß C,
|
||
Möller GM,
|
||
Frazier Z,
|
||
Roberts A,
|
||
Gener B,
|
||
Scala M,
|
||
Striano P,
|
||
Zara F,
|
||
Thiel M,
|
||
Sinnema M,
|
||
Kamsteeg EJ,
|
||
Donkervoort S,
|
||
Duboc V,
|
||
Zaafrane-Khachnaoui K,
|
||
Elkhateeb N,
|
||
Selim L,
|
||
Margot H,
|
||
Marin V,
|
||
Beneteau C,
|
||
Isidor B,
|
||
Cogne B,
|
||
Keren B,
|
||
Küsters B,
|
||
Beggs AH,
|
||
Sveden A,
|
||
Chopra M,
|
||
Genetti CA,
|
||
Nicolai J,
|
||
Dötsch J,
|
||
Koy A,
|
||
Bönnemann CG,
|
||
von der Hagen M,
|
||
von Kleist-Retzow JC,
|
||
Voermans NC,
|
||
Jungbluth H,
|
||
Dafsari HS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2025 Feb 3;148(2):597-612.
|
||
doi: 10.1093/brain/awae183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38848546" target="_blank">38848546</a><a href="/pmc/articles/PMC11788221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35728977">Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shoemark A,
|
||
Griffin H,
|
||
Wheway G,
|
||
Hogg C,
|
||
Lucas JS;
|
||
Genomics England Research Consortium,
|
||
Camps C,
|
||
Taylor J,
|
||
Carroll M,
|
||
Loebinger MR,
|
||
Chalmers JD,
|
||
Morris-Rosendahl D,
|
||
Mitchison HM,
|
||
De Soyza A;
|
||
Genomics England Research Consortium:,
|
||
Brown D,
|
||
Ambrose JC,
|
||
Arumugam P,
|
||
Bevers R,
|
||
Bleda M,
|
||
Boardman-Pretty F,
|
||
Boustred CR,
|
||
Brittain H,
|
||
Caulfield MJ,
|
||
Chan GC,
|
||
Fowler T,
|
||
Giess A,
|
||
Hamblin A,
|
||
Henderson S,
|
||
Hubbard TJP,
|
||
Jackson R,
|
||
Jones LJ,
|
||
Kasperaviciute D,
|
||
Kayikci M,
|
||
Kousathanas A,
|
||
Lahnstein L,
|
||
Leigh SEA,
|
||
Leong IUS,
|
||
Lopez FJ,
|
||
Maleady-Crowe F,
|
||
McEntagart M,
|
||
Minneci F,
|
||
Moutsianas L,
|
||
Mueller M,
|
||
Murugaesu N,
|
||
Need AC,
|
||
O'Donovan P,
|
||
Odhams CA,
|
||
Patch C,
|
||
Perez-Gil D,
|
||
Pereira MB,
|
||
Pullinger J,
|
||
Rahim T,
|
||
Rendon A,
|
||
Rogers T,
|
||
Savage K,
|
||
Sawant K,
|
||
Scott RH,
|
||
Siddiq A,
|
||
Sieghart A,
|
||
Smith SC,
|
||
Sosinsky A,
|
||
Stuckey A,
|
||
Tanguy M,
|
||
Taylor Tavares AL,
|
||
Thomas ERA,
|
||
Thompson SR,
|
||
Tucci A,
|
||
Welland MJ,
|
||
Williams E,
|
||
Witkowska K,
|
||
Wood SM</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2022 Nov;60(5)
|
||
Epub 2022 Nov 17
|
||
doi: 10.1183/13993003.00176-2022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35728977" target="_blank">35728977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35051411">The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hannah WB,
|
||
Seifert BA,
|
||
Truty R,
|
||
Zariwala MA,
|
||
Ameel K,
|
||
Zhao Y,
|
||
Nykamp K,
|
||
Gaston B</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2022 May;10(5):459-468.
|
||
Epub 2022 Jan 17
|
||
doi: 10.1016/S2213-2600(21)00453-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35051411" target="_blank">35051411</a><a href="/pmc/articles/PMC9064931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25633235">Kartagener syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu SJ,
|
||
Loo SW</span><br />
|
||
<span class="medgenPMjournal">Intern Emerg Med</span>
|
||
2015 Aug;10(5):639-40.
|
||
Epub 2015 Jan 30
|
||
doi: 10.1007/s11739-015-1201-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25633235" target="_blank">25633235</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2010%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 (193)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38880279">Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ewen R,
|
||
Pink I,
|
||
Sutharsan S,
|
||
Aries SP,
|
||
Grünewaldt A,
|
||
Shoemark A,
|
||
Sommerwerck U,
|
||
Staar BO,
|
||
Wege S,
|
||
Mertsch P,
|
||
Rademacher J,
|
||
Ringshausen FC;
|
||
PROGNOSIS Study Group</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2024 Nov;166(5):938-950.
|
||
Epub 2024 Jun 15
|
||
doi: 10.1016/j.chest.2024.05.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38880279" target="_blank">38880279</a><a href="/pmc/articles/PMC11562653" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660715">Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringshausen FC,
|
||
Shapiro AJ,
|
||
Nielsen KG,
|
||
Mazurek H,
|
||
Pifferi M,
|
||
Donn KH,
|
||
van der Eerden MM,
|
||
Loebinger MR,
|
||
Zariwala MA,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Ferkol TW;
|
||
CLEAN-PCD investigators and study team</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Jan;12(1):21-33.
|
||
Epub 2023 Aug 31
|
||
doi: 10.1016/S2213-2600(23)00226-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660715" target="_blank">37660715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28745925">Clinical care of children with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas JS,
|
||
Alanin MC,
|
||
Collins S,
|
||
Harris A,
|
||
Johansen HK,
|
||
Nielsen KG,
|
||
Papon JF,
|
||
Robinson P,
|
||
Walker WT</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2017 Oct;11(10):779-790.
|
||
Epub 2017 Aug 2
|
||
doi: 10.1080/17476348.2017.1360770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28745925" target="_blank">28745925</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28478721">Early Diagnosis of Primary Ciliary Dyskinesia: The Role of the Pediatrician.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connor MG,
|
||
Godfrey JC,
|
||
Chinnadurai S,
|
||
Young L</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
2017 Sep;56(10):967-970.
|
||
Epub 2017 May 8
|
||
doi: 10.1177/0009922817706147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28478721" target="_blank">28478721</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2010%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 (62)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38848546">The expanding clinical and genetic spectrum of DYNC1H1-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Möller B,
|
||
Becker LL,
|
||
Saffari A,
|
||
Afenjar A,
|
||
Coci EG,
|
||
Williamson R,
|
||
Ward-Melver C,
|
||
Gibaud M,
|
||
Sedláčková L,
|
||
Laššuthová P,
|
||
Libá Z,
|
||
Vlčková M,
|
||
William N,
|
||
Klee EW,
|
||
Gavrilova RH,
|
||
Lévy J,
|
||
Capri Y,
|
||
Scavina M,
|
||
Körner RW,
|
||
Valivullah Z,
|
||
Weiß C,
|
||
Möller GM,
|
||
Frazier Z,
|
||
Roberts A,
|
||
Gener B,
|
||
Scala M,
|
||
Striano P,
|
||
Zara F,
|
||
Thiel M,
|
||
Sinnema M,
|
||
Kamsteeg EJ,
|
||
Donkervoort S,
|
||
Duboc V,
|
||
Zaafrane-Khachnaoui K,
|
||
Elkhateeb N,
|
||
Selim L,
|
||
Margot H,
|
||
Marin V,
|
||
Beneteau C,
|
||
Isidor B,
|
||
Cogne B,
|
||
Keren B,
|
||
Küsters B,
|
||
Beggs AH,
|
||
Sveden A,
|
||
Chopra M,
|
||
Genetti CA,
|
||
Nicolai J,
|
||
Dötsch J,
|
||
Koy A,
|
||
Bönnemann CG,
|
||
von der Hagen M,
|
||
von Kleist-Retzow JC,
|
||
Voermans NC,
|
||
Jungbluth H,
|
||
Dafsari HS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2025 Feb 3;148(2):597-612.
|
||
doi: 10.1093/brain/awae183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38848546" target="_blank">38848546</a><a href="/pmc/articles/PMC11788221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38880279">Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ewen R,
|
||
Pink I,
|
||
Sutharsan S,
|
||
Aries SP,
|
||
Grünewaldt A,
|
||
Shoemark A,
|
||
Sommerwerck U,
|
||
Staar BO,
|
||
Wege S,
|
||
Mertsch P,
|
||
Rademacher J,
|
||
Ringshausen FC;
|
||
PROGNOSIS Study Group</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2024 Nov;166(5):938-950.
|
||
Epub 2024 Jun 15
|
||
doi: 10.1016/j.chest.2024.05.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38880279" target="_blank">38880279</a><a href="/pmc/articles/PMC11562653" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660715">Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringshausen FC,
|
||
Shapiro AJ,
|
||
Nielsen KG,
|
||
Mazurek H,
|
||
Pifferi M,
|
||
Donn KH,
|
||
van der Eerden MM,
|
||
Loebinger MR,
|
||
Zariwala MA,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Ferkol TW;
|
||
CLEAN-PCD investigators and study team</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Jan;12(1):21-33.
|
||
Epub 2023 Aug 31
|
||
doi: 10.1016/S2213-2600(23)00226-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660715" target="_blank">37660715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28745925">Clinical care of children with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas JS,
|
||
Alanin MC,
|
||
Collins S,
|
||
Harris A,
|
||
Johansen HK,
|
||
Nielsen KG,
|
||
Papon JF,
|
||
Robinson P,
|
||
Walker WT</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2017 Oct;11(10):779-790.
|
||
Epub 2017 Aug 2
|
||
doi: 10.1080/17476348.2017.1360770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28745925" target="_blank">28745925</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2010%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 (74)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38848546">The expanding clinical and genetic spectrum of DYNC1H1-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Möller B,
|
||
Becker LL,
|
||
Saffari A,
|
||
Afenjar A,
|
||
Coci EG,
|
||
Williamson R,
|
||
Ward-Melver C,
|
||
Gibaud M,
|
||
Sedláčková L,
|
||
Laššuthová P,
|
||
Libá Z,
|
||
Vlčková M,
|
||
William N,
|
||
Klee EW,
|
||
Gavrilova RH,
|
||
Lévy J,
|
||
Capri Y,
|
||
Scavina M,
|
||
Körner RW,
|
||
Valivullah Z,
|
||
Weiß C,
|
||
Möller GM,
|
||
Frazier Z,
|
||
Roberts A,
|
||
Gener B,
|
||
Scala M,
|
||
Striano P,
|
||
Zara F,
|
||
Thiel M,
|
||
Sinnema M,
|
||
Kamsteeg EJ,
|
||
Donkervoort S,
|
||
Duboc V,
|
||
Zaafrane-Khachnaoui K,
|
||
Elkhateeb N,
|
||
Selim L,
|
||
Margot H,
|
||
Marin V,
|
||
Beneteau C,
|
||
Isidor B,
|
||
Cogne B,
|
||
Keren B,
|
||
Küsters B,
|
||
Beggs AH,
|
||
Sveden A,
|
||
Chopra M,
|
||
Genetti CA,
|
||
Nicolai J,
|
||
Dötsch J,
|
||
Koy A,
|
||
Bönnemann CG,
|
||
von der Hagen M,
|
||
von Kleist-Retzow JC,
|
||
Voermans NC,
|
||
Jungbluth H,
|
||
Dafsari HS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2025 Feb 3;148(2):597-612.
|
||
doi: 10.1093/brain/awae183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38848546" target="_blank">38848546</a><a href="/pmc/articles/PMC11788221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660715">Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringshausen FC,
|
||
Shapiro AJ,
|
||
Nielsen KG,
|
||
Mazurek H,
|
||
Pifferi M,
|
||
Donn KH,
|
||
van der Eerden MM,
|
||
Loebinger MR,
|
||
Zariwala MA,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Ferkol TW;
|
||
CLEAN-PCD investigators and study team</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Jan;12(1):21-33.
|
||
Epub 2023 Aug 31
|
||
doi: 10.1016/S2213-2600(23)00226-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660715" target="_blank">37660715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35728977">Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shoemark A,
|
||
Griffin H,
|
||
Wheway G,
|
||
Hogg C,
|
||
Lucas JS;
|
||
Genomics England Research Consortium,
|
||
Camps C,
|
||
Taylor J,
|
||
Carroll M,
|
||
Loebinger MR,
|
||
Chalmers JD,
|
||
Morris-Rosendahl D,
|
||
Mitchison HM,
|
||
De Soyza A;
|
||
Genomics England Research Consortium:,
|
||
Brown D,
|
||
Ambrose JC,
|
||
Arumugam P,
|
||
Bevers R,
|
||
Bleda M,
|
||
Boardman-Pretty F,
|
||
Boustred CR,
|
||
Brittain H,
|
||
Caulfield MJ,
|
||
Chan GC,
|
||
Fowler T,
|
||
Giess A,
|
||
Hamblin A,
|
||
Henderson S,
|
||
Hubbard TJP,
|
||
Jackson R,
|
||
Jones LJ,
|
||
Kasperaviciute D,
|
||
Kayikci M,
|
||
Kousathanas A,
|
||
Lahnstein L,
|
||
Leigh SEA,
|
||
Leong IUS,
|
||
Lopez FJ,
|
||
Maleady-Crowe F,
|
||
McEntagart M,
|
||
Minneci F,
|
||
Moutsianas L,
|
||
Mueller M,
|
||
Murugaesu N,
|
||
Need AC,
|
||
O'Donovan P,
|
||
Odhams CA,
|
||
Patch C,
|
||
Perez-Gil D,
|
||
Pereira MB,
|
||
Pullinger J,
|
||
Rahim T,
|
||
Rendon A,
|
||
Rogers T,
|
||
Savage K,
|
||
Sawant K,
|
||
Scott RH,
|
||
Siddiq A,
|
||
Sieghart A,
|
||
Smith SC,
|
||
Sosinsky A,
|
||
Stuckey A,
|
||
Tanguy M,
|
||
Taylor Tavares AL,
|
||
Thomas ERA,
|
||
Thompson SR,
|
||
Tucci A,
|
||
Welland MJ,
|
||
Williams E,
|
||
Witkowska K,
|
||
Wood SM</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2022 Nov;60(5)
|
||
Epub 2022 Nov 17
|
||
doi: 10.1183/13993003.00176-2022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35728977" target="_blank">35728977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24322779">Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barker AR,
|
||
Thomas R,
|
||
Dawe HR</span><br />
|
||
<span class="medgenPMjournal">Organogenesis</span>
|
||
2014 Jan 1;10(1):96-107.
|
||
Epub 2013 Dec 9
|
||
doi: 10.4161/org.27375.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24322779" target="_blank">24322779</a><a href="/pmc/articles/PMC4049900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2010%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 (127)</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/38459147">Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Junior JHMF,
|
||
Junior SP,
|
||
Pustilnik HN,
|
||
de Almeida Leão L,
|
||
da Paz MGDS,
|
||
Araujo TB,
|
||
de Deus FOG,
|
||
Alcântara T,
|
||
Dourado JC,
|
||
de Avellar LM</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2024 Jul;40(7):2161-2168.
|
||
Epub 2024 Mar 9
|
||
doi: 10.1007/s00381-024-06346-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38459147" target="_blank">38459147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31345208">Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Inaba A,
|
||
Furuhata M,
|
||
Morimoto K,
|
||
Rahman M,
|
||
Takahashi O,
|
||
Hijikata M,
|
||
Knowles MR,
|
||
Keicho N</span><br />
|
||
<span class="medgenPMjournal">BMC Pulm Med</span>
|
||
2019 Jul 25;19(1):135.
|
||
doi: 10.1186/s12890-019-0897-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31345208" target="_blank">31345208</a><a href="/pmc/articles/PMC6659197" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27312809">Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adil EA,
|
||
Kawai K,
|
||
Dombrowski N,
|
||
Irace AL,
|
||
Cunningham MJ</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2017 Jan;127(1):6-13.
|
||
Epub 2016 Jun 16
|
||
doi: 10.1002/lary.26070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27312809" target="_blank">27312809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27492829">Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goutaki M,
|
||
Meier AB,
|
||
Halbeisen FS,
|
||
Lucas JS,
|
||
Dell SD,
|
||
Maurer E,
|
||
Casaulta C,
|
||
Jurca M,
|
||
Spycher BD,
|
||
Kuehni CE</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2016 Oct;48(4):1081-1095.
|
||
Epub 2016 Aug 4
|
||
doi: 10.1183/13993003.00736-2016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27492829" target="_blank">27492829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25492164">The etiologies of non-CF bronchiectasis in childhood: a systematic review of 989 subjects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brower KS,
|
||
Del Vecchio MT,
|
||
Aronoff SC</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2014 Dec 10;14:4.
|
||
doi: 10.1186/s12887-014-0299-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25492164" target="_blank">25492164</a><a href="/pmc/articles/PMC4275950" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2010%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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<div class=" bottom">
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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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|
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|
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<!-- MedGen supplemental column starts here -->
|
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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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 id="my-toc"></ul></div>
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" 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=C2675867%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675867%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675867%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (43)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675867%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675867%5bDISCUI%5d" target="_blank">See all (45)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=612518" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Primary%20ciliary%20dyskinesia%2010" 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=(primary%20ciliary%20dyskinesia%2010)%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></ul></div>
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=612517" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=55172[geneid]" target="_blank">View DNAAF2 variations in ClinVar</a></li><li><a href="/nuccore/261245121" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612518" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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|
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<a href="/pubmed/20301301" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed?term=Primary%20ciliary%20dyskinesia%2010%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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