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<meta name="keywords" content="C0009207, cockayne syndrome, cockayne's syndrome, disease or syndrome, dwarfism-retinal atrophy-deafness syndrome, neill-dingwall syndrome, progeria like syndrome, progeria-like syndrome, progeria-like syndromes, progeroid nanism, syndrome, cockayne, syndrome, progeria-like, 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="Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=40363
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ConceptID=C0009207
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cockayne syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40363</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."><span class="highlight" style="background-color:">C0009207</span></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>Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome; Progeroid nanism</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cockayne syndrome (21086008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/2074">ERCC6</a>, <a target="_blank" href="/gene/1161">ERCC8</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016006" target="_blank">MONDO:0016006</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=191">ORPHA191</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1342" target="_blank">Cockayne Syndrome</a></div><div>Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1342#cockayne.Summary" target="NBK1342">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.GeneReview_Scope" target="NBK1342">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.Diagnosis" target="NBK1342">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.Clinical_Characteristics" target="NBK1342">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.Genetically_Related_Allelic_Dis" target="NBK1342">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.Differential_Diagnosis" target="NBK1342">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.Management" target="NBK1342">Management</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.Genetic_Counseling" target="NBK1342">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.Resources" target="NBK1342">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.Molecular_Genetics" target="NBK1342">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.Chapter_Notes" target="NBK1342">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1342#cockayne.References" target="NBK1342">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Vincent Laugel <a href="/books/NBK1342" target="NBK1342" title="NCBI Bookshelf: Cockayne Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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 />Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.<br /><br />People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure.<br /><br />Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. However, the differences between the types are not always clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum. <a target="_blank" href="https://medlineplus.gov/genetics/condition/cockayne-syndrome">https://medlineplus.gov/genetics/condition/cockayne-syndrome</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0009207[DISCUI]&test_type=Clinical" ref="ncbi_uid=40363">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1342/" ref="ncbi_uid=40363">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=40363" ref="ncbi_uid=40363">V</a></span></span><span class="TLline">Cockayne syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751039[DISCUI]&test_type=Clinical" ref="ncbi_uid=155488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=155488" target="_blank" href="/omim/216400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1342/" ref="ncbi_uid=155488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155488" ref="ncbi_uid=155488">V</a></span></span><span class="TLline"><a href="/medgen/155488" ref="tree=GTR&ncbi_uid=155488&link_uid=155488" title="View MedGen record for 'Cockayne syndrome type 1'">Cockayne syndrome type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751038[DISCUI]&test_type=Clinical" ref="ncbi_uid=155487">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=155487" target="_blank" href="/omim/133540">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1342/" ref="ncbi_uid=155487">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155487" ref="ncbi_uid=155487">V</a></span></span><span class="TLline"><a href="/medgen/155487" ref="tree=GTR&ncbi_uid=155487&link_uid=155487" title="View MedGen record for 'Cockayne syndrome type 2'">Cockayne syndrome type 2</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/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/44376" ref="tree=MeSH" title="MedGen record for Metabolic disease">Metabolic disease</a></span><ul><li><span class="TLline"><a href="/medgen/327583" ref="tree=MeSH" title="MedGen record for DNA Repair-Deficiency Disorders">DNA Repair-Deficiency Disorders</a></span><ul><li><span class="matched_ds">Cockayne syndrome</span><ul><li><span class="TLline"><a href="/medgen/155488" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 1">Cockayne syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/155487" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 2">Cockayne syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/196713" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 3">Cockayne syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/1762238" ref="tree=MeSH" title="MedGen record for COFS syndrome">COFS syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/66320" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 1">Cerebrooculofacioskeletal syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/342798" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 4">Cerebrooculofacioskeletal syndrome 4</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=638&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Cockayne syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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>
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37106549">Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng H,
|
||
Chen D,
|
||
Wu Z,
|
||
Wang N</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2023 Sep 5;136(17):2110-2112.
|
||
doi: 10.1097/CM9.0000000000002245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37106549" target="_blank">37106549</a><a href="/pmc/articles/PMC10476805" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17276014">Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kraemer KH,
|
||
Patronas NJ,
|
||
Schiffmann R,
|
||
Brooks BP,
|
||
Tamura D,
|
||
DiGiovanna JJ</span><br />
|
||
<span class="medgenPMjournal">Neuroscience</span>
|
||
2007 Apr 14;145(4):1388-96.
|
||
Epub 2007 Feb 1
|
||
doi: 10.1016/j.neuroscience.2006.12.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17276014" target="_blank">17276014</a><a href="/pmc/articles/PMC2288663" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6672367">Rapid procedures for prenatal diagnosis of Cockayne syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kawai K,
|
||
Ikenaga M,
|
||
Ohtani H,
|
||
Fukuchi K,
|
||
Yamamura K,
|
||
Kumahara Y</span><br />
|
||
<span class="medgenPMjournal">Jinrui Idengaku Zasshi</span>
|
||
1983 Sep;28(3):223-9.
|
||
doi: 10.1007/BF01876604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6672367" target="_blank">6672367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cockayne%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (12)</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/38416570">CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Batenburg NL,
|
||
Sowa DJ,
|
||
Walker JR,
|
||
Andres SN,
|
||
Zhu XD</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acids Res</span>
|
||
2024 May 22;52(9):5067-5087.
|
||
doi: 10.1093/nar/gkae154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38416570" target="_blank">38416570</a><a href="/pmc/articles/PMC11109976" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35230528">XPG: a multitasking genome caretaker.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muniesa-Vargas A,
|
||
Theil AF,
|
||
Ribeiro-Silva C,
|
||
Vermeulen W,
|
||
Lans H</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2022 Mar 1;79(3):166.
|
||
doi: 10.1007/s00018-022-04194-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35230528" target="_blank">35230528</a><a href="/pmc/articles/PMC8888383" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27507608">Cockayne syndrome: Clinical features, model systems and pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karikkineth AC,
|
||
Scheibye-Knudsen M,
|
||
Fivenson E,
|
||
Croteau DL,
|
||
Bohr VA</span><br />
|
||
<span class="medgenPMjournal">Ageing Res Rev</span>
|
||
2017 Jan;33:3-17.
|
||
Epub 2016 Aug 6
|
||
doi: 10.1016/j.arr.2016.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27507608" target="_blank">27507608</a><a href="/pmc/articles/PMC5195851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602044">Bloom syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora H,
|
||
Chacon AH,
|
||
Choudhary S,
|
||
McLeod MP,
|
||
Meshkov L,
|
||
Nouri K,
|
||
Izakovic J</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2014 Jul;53(7):798-802.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1111/ijd.12408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602044" target="_blank">24602044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12609773">Xeroderma pigmentosum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Norgauer J,
|
||
Idzko M,
|
||
Panther E,
|
||
Hellstern O,
|
||
Herouy Y</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
2003 Jan-Feb;13(1):4-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12609773" target="_blank">12609773</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cockayne%20syndrome%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 (469)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35345132">Xeroderma pigmentosum-Cockayne syndrome complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dev N,
|
||
Aggarwal P</span><br />
|
||
<span class="medgenPMjournal">Indian J Med Res</span>
|
||
2020 Nov;152(Suppl 1):S74-S75.
|
||
doi: 10.4103/ijmr.IJMR_2097_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35345132" target="_blank">35345132</a><a href="/pmc/articles/PMC8257092" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32142649">Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakazawa Y,
|
||
Hara Y,
|
||
Oka Y,
|
||
Komine O,
|
||
van den Heuvel D,
|
||
Guo C,
|
||
Daigaku Y,
|
||
Isono M,
|
||
He Y,
|
||
Shimada M,
|
||
Kato K,
|
||
Jia N,
|
||
Hashimoto S,
|
||
Kotani Y,
|
||
Miyoshi Y,
|
||
Tanaka M,
|
||
Sobue A,
|
||
Mitsutake N,
|
||
Suganami T,
|
||
Masuda A,
|
||
Ohno K,
|
||
Nakada S,
|
||
Mashimo T,
|
||
Yamanaka K,
|
||
Luijsterburg MS,
|
||
Ogi T</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2020 Mar 19;180(6):1228-1244.e24.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1016/j.cell.2020.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32142649" target="_blank">32142649</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29699641">The Cellular Response to Transcription-Blocking DNA Damage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregersen LH,
|
||
Svejstrup JQ</span><br />
|
||
<span class="medgenPMjournal">Trends Biochem Sci</span>
|
||
2018 May;43(5):327-341.
|
||
doi: 10.1016/j.tibs.2018.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29699641" target="_blank">29699641</a><a href="/pmc/articles/PMC5929563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27507608">Cockayne syndrome: Clinical features, model systems and pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karikkineth AC,
|
||
Scheibye-Knudsen M,
|
||
Fivenson E,
|
||
Croteau DL,
|
||
Bohr VA</span><br />
|
||
<span class="medgenPMjournal">Ageing Res Rev</span>
|
||
2017 Jan;33:3-17.
|
||
Epub 2016 Aug 6
|
||
doi: 10.1016/j.arr.2016.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27507608" target="_blank">27507608</a><a href="/pmc/articles/PMC5195851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24954209">Understanding nucleotide excision repair and its roles in cancer and ageing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marteijn JA,
|
||
Lans H,
|
||
Vermeulen W,
|
||
Hoeijmakers JH</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Mol Cell Biol</span>
|
||
2014 Jul;15(7):465-81.
|
||
doi: 10.1038/nrm3822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24954209" target="_blank">24954209</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cockayne%20syndrome%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 (443)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34768013">Hepatotoxicity of metronidazole in Cockayne syndrome: A clinical report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunaut T,
|
||
Boulagnon-Rombi C,
|
||
Thorn H,
|
||
Doco-Fenzy M,
|
||
Thiéfin G</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Jan;65(1):104388.
|
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|
||
doi: 10.1016/j.ejmg.2021.104388.
|
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<span class="bold">PMID: </span><a href="/pubmed/34768013" target="_blank">34768013</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/29683386">Coupling between nucleotide excision repair and gene expression.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cambindo Botto AE,
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<span class="bold">PMID: </span><a href="/pubmed/29683386" target="_blank">29683386</a><a href="/pmc/articles/PMC6161737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25534312">Molecular regulation of UV-induced DNA repair.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shah P,
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<div class="nl"><a target="_blank" href="/pubmed/24334614">Role of DNA damage in cardiovascular disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ishida T,
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Ishida M,
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<span class="bold">PMID: </span><a href="/pubmed/24334614" target="_blank">24334614</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6351001">Photosensitivity in children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ramsay CA</span><br />
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1983 Aug;30(4):687-99.
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<span class="bold">PMID: </span><a href="/pubmed/6351001" target="_blank">6351001</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cockayne%20syndrome%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 (102)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37688320">Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Crochemore C,
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Chica C,
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Garagnani P,
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<span class="medgenPMjournal">Aging Cell</span>
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2023 Oct;22(10):e13959.
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Epub 2023 Sep 8
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doi: 10.1111/acel.13959.
|
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<span class="bold">PMID: </span><a href="/pubmed/37688320" target="_blank">37688320</a><a href="/pmc/articles/PMC10577576" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/24602044">Bloom syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arora H,
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Chacon AH,
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Choudhary S,
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<span class="medgenPMjournal">Int J Dermatol</span>
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2014 Jul;53(7):798-802.
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Epub 2014 Mar 6
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<span class="bold">PMID: </span><a href="/pubmed/24602044" target="_blank">24602044</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/22044607">Xeroderma pigmentosum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lehmann AR,
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2011 Nov 1;6:70.
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<div class="nl"><a target="_blank" href="/pubmed/11310397">Cockayne syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khan GQ,
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Hassan G,
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2000 Nov;48(11):1119-21.
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<span class="bold">PMID: </span><a href="/pubmed/11310397" target="_blank">11310397</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2413343">Hereditary and acquired polyneuropathies. Electrophysiologic aspects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miller RG</span><br />
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<span class="medgenPMjournal">Neurol Clin</span>
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1985 Aug;3(3):543-56.
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<span class="bold">PMID: </span><a href="/pubmed/2413343" target="_blank">2413343</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cockayne%20syndrome%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 (88)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39019869">Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
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Xu J,
|
||
Hu J,
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||
Zhang S,
|
||
Hao Y,
|
||
Zhang D,
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||
Qian H,
|
||
Wang D,
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Fu XD</span><br />
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||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Jul 17;15(1):6031.
|
||
doi: 10.1038/s41467-024-50298-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39019869" target="_blank">39019869</a><a href="/pmc/articles/PMC11255242" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37688320">Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crochemore C,
|
||
Chica C,
|
||
Garagnani P,
|
||
Lattanzi G,
|
||
Horvath S,
|
||
Sarasin A,
|
||
Franceschi C,
|
||
Bacalini MG,
|
||
Ricchetti M</span><br />
|
||
<span class="medgenPMjournal">Aging Cell</span>
|
||
2023 Oct;22(10):e13959.
|
||
Epub 2023 Sep 8
|
||
doi: 10.1111/acel.13959.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37688320" target="_blank">37688320</a><a href="/pmc/articles/PMC10577576" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37363863">Aldehyde-Associated Mutagenesis─Current State of Knowledge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vijayraghavan S,
|
||
Saini N</span><br />
|
||
<span class="medgenPMjournal">Chem Res Toxicol</span>
|
||
2023 Jul 17;36(7):983-1001.
|
||
Epub 2023 Jun 26
|
||
doi: 10.1021/acs.chemrestox.3c00045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37363863" target="_blank">37363863</a><a href="/pmc/articles/PMC10354807" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34855372">Cockayne Syndrome B Protein Selectively Resolves and Interact with Intermolecular DNA G-Quadruplex Structures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liano D,
|
||
Chowdhury S,
|
||
Di Antonio M</span><br />
|
||
<span class="medgenPMjournal">J Am Chem Soc</span>
|
||
2021 Dec 15;143(49):20988-21002.
|
||
Epub 2021 Dec 2
|
||
doi: 10.1021/jacs.1c10745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34855372" target="_blank">34855372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9250659">Cockayne syndrome: defective repair of transcription?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Gool AJ,
|
||
van der Horst GT,
|
||
Citterio E,
|
||
Hoeijmakers JH</span><br />
|
||
<span class="medgenPMjournal">EMBO J</span>
|
||
1997 Jul 16;16(14):4155-62.
|
||
doi: 10.1093/emboj/16.14.4155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9250659" target="_blank">9250659</a><a href="/pmc/articles/PMC1170041" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cockayne%20syndrome%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 (207)</a></div></div>
|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0009207%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
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||
<li><a href="/gtr/tests?term=C0009207%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
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||
<li><a href="/gtr/tests?term=C0009207%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
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<li><a href="/gtr/tests?term=C0009207%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=191" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cockayne%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<a href="/pubmed/clinical?term=Cockayne%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Cockayne%20syndrome%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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