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<!--
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||
UID=78580
|
||
ConceptID=C0265965
|
||
-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK22301/bin/dkc-Image002.gif" src-large="/books/NBK22301/bin/dkc-Image002.jpg" /></a><br /><a href="/books/NBK22301/figure/dkc.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK22301/bin/dkc-Image001.gif" src-large="/books/NBK22301/bin/dkc-Image001.jpg" /></a><br /><a href="/books/NBK22301/figure/dkc.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK22301/bin/dkc-Image003.gif" src-large="/books/NBK22301/bin/dkc-Image003.jpg" /></a><br /><a href="/books/NBK22301/figure/dkc.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Dyskeratosis congenita</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78580</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.">C0265965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Dyskeratosis Congenita</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>DKC - Dyskeratosis congenita (74911008); Cole-Engmann-Zinsser syndrome (74911008); Zinsser-Cole-Engmann syndrome (74911008); Dyskeratosis congenita (74911008); Zinsser-Cole-Engman syndrome (74911008); Congenital dyskeratosis (74911008)</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="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked 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/55651">NHP2</a>, <a target="_blank" href="/gene/55505">NOP10</a>, <a target="_blank" href="/gene/55135">WRAP53</a>, <a target="_blank" href="/gene/51750">RTEL1</a>, <a target="_blank" href="/gene/26277">TINF2</a>, <a target="_blank" href="/gene/7015">TERT</a>, <a target="_blank" href="/gene/7012">TERC</a>, <a target="_blank" href="/gene/5073">PARN</a>, <a target="_blank" href="/gene/1736">DKC1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015780" target="_blank">MONDO:0015780</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS127550" target="_blank">PS127550</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=1775">ORPHA1775</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">
|
||
<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>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK22301" target="_blank">Dyskeratosis Congenita and Related Telomere Biology Disorders</a></div><div>Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF. [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/NBK22301#dkc.Summary" target="NBK22301">Summary</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.GeneReview_Scope" target="NBK22301">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Diagnosis" target="NBK22301">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Clinical_Characteristics" target="NBK22301">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Genetically_Related_Allelic_Disorder" target="NBK22301">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Differential_Diagnosis" target="NBK22301">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Management" target="NBK22301">Management</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Genetic_Counseling" target="NBK22301">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Resources" target="NBK22301">Resources</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Molecular_Genetics" target="NBK22301">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.Chapter_Notes" target="NBK22301">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK22301#dkc.References" target="NBK22301">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
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Sharon A Savage | Marena R Niewisch <a href="/books/NBK22301" target="NBK22301" title="NCBI Bookshelf: Dyskeratosis Congenita and Related Telomere Biology Disorders">view full author information</a></div></div>
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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>
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<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).<br /><br />People with dyskeratosis congenita have an increased risk of developing several life-threatening conditions. They are especially vulnerable to disorders that impair bone marrow function. These disorders disrupt the ability of the bone marrow to produce new blood cells. Affected individuals may develop aplastic anemia, also known as bone marrow failure, which occurs when the bone marrow does not produce enough new blood cells. They are also at higher than average risk for myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally; this condition may progress to a form of blood cancer called leukemia. People with dyskeratosis congenita are also at increased risk of developing leukemia even if they never develop myelodysplastic syndrome. In addition, they have a higher than average risk of developing other cancers, especially cancers of the head, neck, anus, or genitals.<br /><br />People with dyskeratosis congenita may also develop pulmonary fibrosis, a condition that causes scar tissue (fibrosis) to build up in the lungs, decreasing the transport of oxygen into the bloodstream. Additional signs and symptoms that occur in some people with dyskeratosis congenita include eye abnormalities such as narrow tear ducts that may become blocked, preventing drainage of tears and leading to eyelid irritation; dental problems; hair loss or prematurely grey hair; low bone mineral density (osteoporosis); degeneration (avascular necrosis) of the hip and shoulder joints; or liver disease. Some affected males may have narrowing (stenosis) of the urethra, which is the tube that carries urine out of the body from the bladder. Urethral stenosis may lead to difficult or painful urination and urinary tract infections.<br /><br />The severity of dyskeratosis congenita varies widely among affected individuals. The least severely affected individuals have only a few mild physical features of the disorder and normal bone marrow function. More severely affected individuals have many of the characteristic physical features and experience bone marrow failure, cancer, or pulmonary fibrosis by early adulthood.<br /><br />While most people with dyskeratosis congenita have normal intelligence and development of motor skills such as standing and walking, developmental delay may occur in some severely affected individuals. In one severe form of the disorder called Hoyeraal Hreidaarsson syndrome, affected individuals have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back of the eye (retina) in addition to the other symptoms of dyskeratosis congenita. <a target="_blank" href="https://medlineplus.gov/genetics/condition/dyskeratosis-congenita">https://medlineplus.gov/genetics/condition/dyskeratosis-congenita</a></div></div>
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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><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=C0265965[DISCUI]&test_type=Clinical" ref="ncbi_uid=78580">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/NBK22301/" ref="ncbi_uid=78580">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78580" ref="ncbi_uid=78580">V</a></span></span><span class="TLline">Dyskeratosis congenita</span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/502504" ref="tree=GTR&ncbi_uid=502504&link_uid=502504" title="View MedGen record for 'Autosomal recessive dyskeratosis congenita'">Autosomal recessive dyskeratosis congenita</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=C1857144[DISCUI]&test_type=Clinical" ref="ncbi_uid=341705">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341705" target="_blank" href="/omim/224230">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=341705">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341705" ref="ncbi_uid=341705">V</a></span></span><span class="TLline"><a href="/medgen/341705" ref="tree=GTR&ncbi_uid=341705&link_uid=341705" title="View MedGen record for 'Dyskeratosis congenita, autosomal recessive 1'">Dyskeratosis congenita, autosomal recessive 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=C3151441[DISCUI]&test_type=Clinical" ref="ncbi_uid=462791">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462791" target="_blank" href="/omim/606470">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=462791">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462791" ref="ncbi_uid=462791">V</a></span></span><span class="TLline"><a href="/medgen/462791" ref="tree=GTR&ncbi_uid=462791&link_uid=462791" title="View MedGen record for 'Dyskeratosis congenita, autosomal recessive 2'">Dyskeratosis congenita, autosomal recessive 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=C3151442[DISCUI]&test_type=Clinical" ref="ncbi_uid=462792">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462792" target="_blank" href="/omim/612661">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=462792">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462792" ref="ncbi_uid=462792">V</a></span></span><span class="TLline"><a href="/medgen/462792" ref="tree=GTR&ncbi_uid=462792&link_uid=462792" title="View MedGen record for 'Dyskeratosis congenita, autosomal recessive 3'">Dyskeratosis congenita, autosomal recessive 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=C4225356[DISCUI]&test_type=Clinical" ref="ncbi_uid=905452">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=905452" target="_blank" href="/omim/604212">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=905452">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=905452" ref="ncbi_uid=905452">V</a></span></span><span class="TLline"><a href="/medgen/905452" ref="tree=GTR&ncbi_uid=905452&link_uid=905452" title="View MedGen record for 'Dyskeratosis congenita, autosomal recessive 6'">Dyskeratosis congenita, autosomal recessive 6</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151444[DISCUI]&test_type=Clinical" ref="ncbi_uid=462794">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462794" target="_blank" href="/omim/187270">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=462794" ref="ncbi_uid=462794">V</a></span></span><span class="TLline"><a href="/medgen/462794" ref="tree=GTR&ncbi_uid=462794&link_uid=462794" title="View MedGen record for 'Autosomal recessive dyskeratosis congenita 4'">Autosomal recessive dyskeratosis congenita 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=C4551974[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645250">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645250" target="_blank" href="/omim/127550">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=1645250">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645250" ref="ncbi_uid=1645250">V</a></span></span><span class="TLline"><a href="/medgen/1645250" ref="tree=GTR&ncbi_uid=1645250&link_uid=1645250" title="View MedGen record for 'Dyskeratosis congenita, autosomal dominant 1'">Dyskeratosis congenita, autosomal dominant 1</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=C3151443[DISCUI]&test_type=Clinical" ref="ncbi_uid=462793">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462793" target="_blank" href="/omim/187270">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=462793">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462793" ref="ncbi_uid=462793">V</a></span></span><span class="TLline"><a href="/medgen/462793" ref="tree=GTR&ncbi_uid=462793&link_uid=462793" title="View MedGen record for 'Dyskeratosis congenita, autosomal dominant 2'">Dyskeratosis congenita, autosomal dominant 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=C3151445[DISCUI]&test_type=Clinical" ref="ncbi_uid=462795">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462795" target="_blank" href="/omim/604319">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=462795">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462795" ref="ncbi_uid=462795">V</a></span></span><span class="TLline"><a href="/medgen/462795" ref="tree=GTR&ncbi_uid=462795&link_uid=462795" title="View MedGen record for 'Dyskeratosis congenita, autosomal dominant 3'">Dyskeratosis congenita, autosomal dominant 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=C3808802[DISCUI]&test_type=Clinical" ref="ncbi_uid=815132">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815132" target="_blank" href="/omim/608833">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=815132" ref="ncbi_uid=815132">V</a></span></span><span class="TLline"><a href="/medgen/815132" ref="tree=GTR&ncbi_uid=815132&link_uid=815132" title="View MedGen record for 'Dyskeratosis congenita, autosomal dominant 4'">Dyskeratosis congenita, autosomal dominant 4</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554656[DISCUI]&test_type=Clinical" ref="ncbi_uid=767570">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767570" target="_blank" href="/omim/608833">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=767570">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767570" ref="ncbi_uid=767570">V</a></span></span><span class="TLline"><a href="/medgen/767570" ref="tree=GTR&ncbi_uid=767570&link_uid=767570" title="View MedGen record for 'Dyskeratosis congenita, autosomal recessive 5'">Dyskeratosis congenita, autosomal recessive 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=C1148551[DISCUI]&test_type=Clinical" ref="ncbi_uid=216941">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=216941" target="_blank" href="/omim/300126">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK22301/" ref="ncbi_uid=216941">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=216941" ref="ncbi_uid=216941">V</a></span></span><span class="TLline"><a href="/medgen/216941" ref="tree=GTR&ncbi_uid=216941&link_uid=216941" title="View MedGen record for 'Dyskeratosis congenita, X-linked'">Dyskeratosis congenita, X-linked</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/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/11449" ref="tree=MeSH" title="MedGen record for Congenital anomaly of skin">Congenital anomaly of skin</a></span><ul><li><span class="matched_ds">Dyskeratosis congenita</span><ul><li><span class="TLline"><a href="/medgen/502504" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita">Autosomal recessive dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/341705" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 1">Dyskeratosis congenita, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/462791" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 2">Dyskeratosis congenita, autosomal recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/462792" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 3">Dyskeratosis congenita, autosomal recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/905452" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 6">Dyskeratosis congenita, autosomal recessive 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462794" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita 4">Autosomal recessive dyskeratosis congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/1645250" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 1">Dyskeratosis congenita, autosomal dominant 1</a></span><ul><li><span class="TLline"><a href="/medgen/462793" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 2">Dyskeratosis congenita, autosomal dominant 2</a></span></li><li><span class="TLline"><a href="/medgen/462795" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 3">Dyskeratosis congenita, autosomal dominant 3</a></span></li><li><span class="TLline"><a href="/medgen/815132" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 4">Dyskeratosis congenita, autosomal dominant 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/904824" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 6">Dyskeratosis congenita, autosomal dominant 6</a></span></li><li><span class="TLline"><a href="/medgen/767570" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 5">Dyskeratosis congenita, autosomal recessive 5</a></span></li><li><span class="TLline"><a href="/medgen/216941" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, X-linked">Dyskeratosis congenita, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/231230" ref="tree=MeSH" title="MedGen record for Revesz syndrome">Revesz syndrome</a></span></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=477&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Dyskeratosis congenita</span> in Orphanet.</div></div></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/34404536">Treatment of telomeropathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vieri M,
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Brümmendorf TH,
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Beier F</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Haematol</span>
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2021 Jun;34(2):101282.
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Epub 2021 Jul 1
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doi: 10.1016/j.beha.2021.101282.
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<span class="bold">PMID: </span><a href="/pubmed/34404536" target="_blank">34404536</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25182133">Clinical utility gene card for: Dyskeratosis congenita - update 2015.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dokal I,
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Vulliamy T,
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Mason P,
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Bessler M</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2015 Apr;23(4)
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Epub 2014 Sep 3
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doi: 10.1038/ejhg.2014.170.
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<span class="bold">PMID: </span><a href="/pubmed/25182133" target="_blank">25182133</a><a href="/pmc/articles/PMC4667501" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21610750">Clinical utility gene card for: dyskeratosis congenita.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dokal I,
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Vulliamy T,
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Mason P,
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Bessler M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Nov;19(11)
|
||
Epub 2011 May 25
|
||
doi: 10.1038/ejhg.2011.90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21610750" target="_blank">21610750</a><a href="/pmc/articles/PMC3198148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22dyskeratosis%20congenita%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 (19)</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/33128420">Oral potentially malignant disorders: A consensus report from an international seminar on nomenclature and classification, convened by the WHO Collaborating Centre for Oral Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S,
|
||
Kujan O,
|
||
Aguirre-Urizar JM,
|
||
Bagan JV,
|
||
González-Moles MÁ,
|
||
Kerr AR,
|
||
Lodi G,
|
||
Mello FW,
|
||
Monteiro L,
|
||
Ogden GR,
|
||
Sloan P,
|
||
Johnson NW</span><br />
|
||
<span class="medgenPMjournal">Oral Dis</span>
|
||
2021 Nov;27(8):1862-1880.
|
||
Epub 2020 Nov 26
|
||
doi: 10.1111/odi.13704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33128420" target="_blank">33128420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32930426">Dyskeratosis congenita: a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">AlSabbagh MM</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2020 Sep;18(9):943-967.
|
||
Epub 2020 Sep 15
|
||
doi: 10.1111/ddg.14268.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32930426" target="_blank">32930426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31486376">Dyskeratosis Congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoopler ET,
|
||
Shanti RM</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2019 Sep;94(9):1668-1669.
|
||
doi: 10.1016/j.mayocp.2019.04.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31486376" target="_blank">31486376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29673799">Clinical features and presentation of oral potentially malignant disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S</span><br />
|
||
<span class="medgenPMjournal">Oral Surg Oral Med Oral Pathol Oral Radiol</span>
|
||
2018 Jun;125(6):582-590.
|
||
Epub 2018 Apr 4
|
||
doi: 10.1016/j.oooo.2018.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29673799" target="_blank">29673799</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17944749">Nomenclature and classification of potentially malignant disorders of the oral mucosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S,
|
||
Johnson NW,
|
||
van der Waal I</span><br />
|
||
<span class="medgenPMjournal">J Oral Pathol Med</span>
|
||
2007 Nov;36(10):575-80.
|
||
doi: 10.1111/j.1600-0714.2007.00582.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17944749" target="_blank">17944749</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%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 (220)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33128420">Oral potentially malignant disorders: A consensus report from an international seminar on nomenclature and classification, convened by the WHO Collaborating Centre for Oral Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S,
|
||
Kujan O,
|
||
Aguirre-Urizar JM,
|
||
Bagan JV,
|
||
González-Moles MÁ,
|
||
Kerr AR,
|
||
Lodi G,
|
||
Mello FW,
|
||
Monteiro L,
|
||
Ogden GR,
|
||
Sloan P,
|
||
Johnson NW</span><br />
|
||
<span class="medgenPMjournal">Oral Dis</span>
|
||
2021 Nov;27(8):1862-1880.
|
||
Epub 2020 Nov 26
|
||
doi: 10.1111/odi.13704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33128420" target="_blank">33128420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31486376">Dyskeratosis Congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoopler ET,
|
||
Shanti RM</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2019 Sep;94(9):1668-1669.
|
||
doi: 10.1016/j.mayocp.2019.04.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31486376" target="_blank">31486376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29673799">Clinical features and presentation of oral potentially malignant disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S</span><br />
|
||
<span class="medgenPMjournal">Oral Surg Oral Med Oral Pathol Oral Radiol</span>
|
||
2018 Jun;125(6):582-590.
|
||
Epub 2018 Apr 4
|
||
doi: 10.1016/j.oooo.2018.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29673799" target="_blank">29673799</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28402761">Dyskeratosis Congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelmenson DA,
|
||
Hanley M</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2017 Apr 13;376(15):1460.
|
||
doi: 10.1056/NEJMicm1613081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28402761" target="_blank">28402761</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17944749">Nomenclature and classification of potentially malignant disorders of the oral mucosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S,
|
||
Johnson NW,
|
||
van der Waal I</span><br />
|
||
<span class="medgenPMjournal">J Oral Pathol Med</span>
|
||
2007 Nov;36(10):575-80.
|
||
doi: 10.1111/j.1600-0714.2007.00582.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17944749" target="_blank">17944749</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%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 (361)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37259830">Hematopoietic cell transplantation for telomere biology diseases: A retrospective single-center cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nichele S,
|
||
Bonfim C,
|
||
Junior LGD,
|
||
Loth G,
|
||
Kuwahara C,
|
||
Trennephol J,
|
||
Funke VAM,
|
||
Marinho DE,
|
||
Koliski A,
|
||
Rodrigues AM,
|
||
Mousquer RTG,
|
||
Fasth A,
|
||
Lima ACM,
|
||
Calado RT,
|
||
Pasquini R</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2023 Sep;111(3):423-431.
|
||
Epub 2023 Jun 1
|
||
doi: 10.1111/ejh.14023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37259830" target="_blank">37259830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31486376">Dyskeratosis Congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoopler ET,
|
||
Shanti RM</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2019 Sep;94(9):1668-1669.
|
||
doi: 10.1016/j.mayocp.2019.04.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31486376" target="_blank">31486376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29673799">Clinical features and presentation of oral potentially malignant disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S</span><br />
|
||
<span class="medgenPMjournal">Oral Surg Oral Med Oral Pathol Oral Radiol</span>
|
||
2018 Jun;125(6):582-590.
|
||
Epub 2018 Apr 4
|
||
doi: 10.1016/j.oooo.2018.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29673799" target="_blank">29673799</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20687509">Dyskeratosis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta V,
|
||
Kumar A</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2010;685:215-9.
|
||
doi: 10.1007/978-1-4419-6448-9_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20687509" target="_blank">20687509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9125768">Reticulate hyperpigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schnur RE,
|
||
Heymann WR</span><br />
|
||
<span class="medgenPMjournal">Semin Cutan Med Surg</span>
|
||
1997 Mar;16(1):72-80.
|
||
doi: 10.1016/s1085-5629(97)80038-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9125768" target="_blank">9125768</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%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 (110)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33228937">Pulmonary Manifestations of Skin Disorders in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen BA,
|
||
Turcios NL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2021 Feb;68(1):261-276.
|
||
doi: 10.1016/j.pcl.2020.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33228937" target="_blank">33228937</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31486376">Dyskeratosis Congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoopler ET,
|
||
Shanti RM</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2019 Sep;94(9):1668-1669.
|
||
doi: 10.1016/j.mayocp.2019.04.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31486376" target="_blank">31486376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29673799">Clinical features and presentation of oral potentially malignant disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S</span><br />
|
||
<span class="medgenPMjournal">Oral Surg Oral Med Oral Pathol Oral Radiol</span>
|
||
2018 Jun;125(6):582-590.
|
||
Epub 2018 Apr 4
|
||
doi: 10.1016/j.oooo.2018.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29673799" target="_blank">29673799</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17901676">Revesz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riyaz A,
|
||
Riyaz N,
|
||
Jayakrishnan MP,
|
||
Mohamed Shiras PT,
|
||
Ajith Kumar VT,
|
||
Ajith BS</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2007 Sep;74(9):862-3.
|
||
doi: 10.1007/s12098-007-0155-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17901676" target="_blank">17901676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12737310">Dyskeratosis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marrone A,
|
||
Mason PJ</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2003 Mar;60(3):507-17.
|
||
doi: 10.1007/s000180300042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12737310" target="_blank">12737310</a><a href="/pmc/articles/PMC11138805" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%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 (150)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38612901">A Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prime SS,
|
||
Darski P,
|
||
Hunter KD,
|
||
Cirillo N,
|
||
Parkinson EK</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 7;25(7)
|
||
doi: 10.3390/ijms25074092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38612901" target="_blank">38612901</a><a href="/pmc/articles/PMC11012950" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34404536">Treatment of telomeropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vieri M,
|
||
Brümmendorf TH,
|
||
Beier F</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Haematol</span>
|
||
2021 Jun;34(2):101282.
|
||
Epub 2021 Jul 1
|
||
doi: 10.1016/j.beha.2021.101282.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34404536" target="_blank">34404536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18054991">Telomere length inheritance and aging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kappei D,
|
||
Londoño-Vallejo JA</span><br />
|
||
<span class="medgenPMjournal">Mech Ageing Dev</span>
|
||
2008 Jan-Feb;129(1-2):17-26.
|
||
Epub 2007 Oct 30
|
||
doi: 10.1016/j.mad.2007.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18054991" target="_blank">18054991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16822458">Dyskeratosis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vulliamy T,
|
||
Dokal I</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
2006 Jul;43(3):157-66.
|
||
doi: 10.1053/j.seminhematol.2006.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16822458" target="_blank">16822458</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12737310">Dyskeratosis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marrone A,
|
||
Mason PJ</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2003 Mar;60(3):507-17.
|
||
doi: 10.1007/s000180300042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12737310" target="_blank">12737310</a><a href="/pmc/articles/PMC11138805" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%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 (182)</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/34651516">Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu AQ,
|
||
Deane EC,
|
||
Prisman E,
|
||
Durham JS</span><br />
|
||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
|
||
2022 Sep;131(9):1036-1042.
|
||
Epub 2021 Oct 15
|
||
doi: 10.1177/00034894211047470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34651516" target="_blank">34651516</a><a href="/pmc/articles/PMC9340128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34479523">Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang P,
|
||
Xu Z</span><br />
|
||
<span class="medgenPMjournal">BMC Pulm Med</span>
|
||
2021 Sep 3;21(1):279.
|
||
doi: 10.1186/s12890-021-01645-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34479523" target="_blank">34479523</a><a href="/pmc/articles/PMC8418029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27607446">Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elmahadi S,
|
||
Muramatsu H,
|
||
Kojima S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2016 Nov;23(6):501-507.
|
||
doi: 10.1097/MOH.0000000000000290.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27607446" target="_blank">27607446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26968789">Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbaro P,
|
||
Vedi A</span><br />
|
||
<span class="medgenPMjournal">Biol Blood Marrow Transplant</span>
|
||
2016 Jul;22(7):1152-1158.
|
||
Epub 2016 Mar 8
|
||
doi: 10.1016/j.bbmt.2016.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26968789" target="_blank">26968789</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dyskeratosis%20congenita%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<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 mgSection" id="ID_106">
|
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0265965%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265965%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265965%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265965%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0265965%5bDISCUI%5d" target="_blank">See all (35)</a></total></li>
|
||
</ul></div>
|
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|
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||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS127550" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1775" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Dyskeratosis%20congenita" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(%22dyskeratosis%20congenita%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Dyskeratosis%20congenita%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Dyskeratosis+congenita/9566" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Dyskeratosis%20congenita" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/dyskeratosis-congenita" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10905/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<h3>Reviews</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
|
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<ul>
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||
<li>
|
||
<a href="/pubmed/20301779" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Dyskeratosis%20congenita" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
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||
<a href="/pubmed?term=Dyskeratosis%20congenita%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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|
||
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|
||
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|
||
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|
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|
||
<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
|
||
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|
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=78580" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
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</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0265965[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0265965[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
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|
||
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||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=78580" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=78580" ref="log$=recordlinks">NCBI Bookshelf</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
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|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=78580" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=78580" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=78580" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=78580" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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<ul id="activity">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3bf9584f3725e59a74171">Dyskeratosis congenita</a>
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