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<meta name="keywords" content="C4225344, disease or syndrome, ercc3, trichothiodystrophy 2, photosensitive, ttd2, 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="Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). For a discussion of genetic heterogeneity of TTD, see 601675." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=905904
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ConceptID=C4225344
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Trichothiodystrophy 2, photosensitive<span class="h1sub">(TTD2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905904</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:">C4225344</span></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>TTD2</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ERCC3 - ID: 2071 - NCBI Gene" href="/gene/2071" class="medgenPMinfo">ERCC3</a> (2q14.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014615" target="_blank">MONDO:0014615</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616390" target="_blank">616390</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). For a discussion of genetic heterogeneity of TTD, see 601675. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.<br /><br />Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.<br /><br />Intellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.<br /><br />Mothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. <br /><br />The signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.<br /><br />In people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."<br /><br />Trichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. <a target="_blank" href="https://medlineplus.gov/genetics/condition/trichothiodystrophy">https://medlineplus.gov/genetics/condition/trichothiodystrophy</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342374"><div><strong>Agenesis of maxillary lateral incisor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342374</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.">C1849950</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342374">Feature record</a> | <a href="/medgen?term=%22Agenesis%20of%20maxillary%20lateral%20incisor%22%5BClinical%20Features%5D%20OR%20342374%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7002"><div><strong>Ichthyosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7002</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.">C0020757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7002">Feature record</a> | <a href="/medgen?term=%22Ichthyosis%22%5BClinical%20Features%5D%20OR%207002%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_38180"><div><strong>Congenital nonbullous ichthyosiform erythroderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38180</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.">C0079154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38180">Feature record</a> | <a href="/medgen?term=%22Congenital%20nonbullous%20ichthyosiform%20erythroderma%22%5BClinical%20Features%5D%20OR%2038180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_124454"><div><strong>Coarse hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124454</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.">C0277959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hair shafts are rough in texture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124454">Feature record</a> | <a href="/medgen?term=%22Coarse%20hair%22%5BClinical%20Features%5D%20OR%20124454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87601"><div><strong>Cutaneous photosensitivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87601</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.">C0349506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87601">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20photosensitivity%22%5BClinical%20Features%5D%20OR%2087601%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892884"><div><strong>Tiger tail banding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892884</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.">C4073178</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892884">Feature record</a> | <a href="/medgen?term=%22Tiger%20tail%20banding%22%5BClinical%20Features%5D%20OR%20892884%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agenesis of maxillary lateral incisor</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse hair</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_38180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital nonbullous ichthyosiform erythroderma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous photosensitivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ichthyosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892884" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tiger tail banding</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225344[DISCUI]&test_type=Clinical" ref="ncbi_uid=905904">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=905904" target="_blank" href="/omim/133510">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=905904" ref="ncbi_uid=905904">V</a></span></span><span class="TLline">Trichothiodystrophy 2, photosensitive</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842738" ref="tree=MeSH" title="MedGen record for Autosomal ichthyosis syndrome with prominent hair abnormalities">Autosomal ichthyosis syndrome with prominent hair abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/363064" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy">Trichothiodystrophy</a></span><ul><li><span class="matched_ds">Trichothiodystrophy 2, photosensitive</span></li></ul></li></ul></li></ul></div></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/9008227">The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alapetite C,
|
||
Benoit A,
|
||
Moustacchi E,
|
||
Sarasin A</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
1997 Feb;108(2):154-9.
|
||
doi: 10.1111/1523-1747.ep12332692.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9008227" target="_blank">9008227</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(trichothiodystrophy%202%2C%20photosensitive)%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 (1)</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/16904611">An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andressoo JO,
|
||
Mitchell JR,
|
||
de Wit J,
|
||
Hoogstraten D,
|
||
Volker M,
|
||
Toussaint W,
|
||
Speksnijder E,
|
||
Beems RB,
|
||
van Steeg H,
|
||
Jans J,
|
||
de Zeeuw CI,
|
||
Jaspers NG,
|
||
Raams A,
|
||
Lehmann AR,
|
||
Vermeulen W,
|
||
Hoeijmakers JH,
|
||
van der Horst GT</span><br />
|
||
<span class="medgenPMjournal">Cancer Cell</span>
|
||
2006 Aug;10(2):121-32.
|
||
doi: 10.1016/j.ccr.2006.05.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16904611" target="_blank">16904611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9771713">Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coin F,
|
||
Marinoni JC,
|
||
Rodolfo C,
|
||
Fribourg S,
|
||
Pedrini AM,
|
||
Egly JM</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1998 Oct;20(2):184-8.
|
||
doi: 10.1038/2491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9771713" target="_blank">9771713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1372108">The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson RT,
|
||
Squires S</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1992 Mar;273(2):97-118.
|
||
doi: 10.1016/0921-8777(92)90072-b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1372108" target="_blank">1372108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1372096">A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arlett CF,
|
||
Harcourt SA,
|
||
Cole J,
|
||
Green MH,
|
||
Anstey AV</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1992 Mar;273(2):127-35.
|
||
doi: 10.1016/0921-8777(92)90074-d.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1372096" target="_blank">1372096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1372095">DNA repair investigations in nine Italian patients affected by trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanini M,
|
||
Giliani S,
|
||
Nardo T,
|
||
Marinoni S,
|
||
Nazzaro V,
|
||
Rizzo R,
|
||
Trevisan G</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1992 Mar;273(2):119-25.
|
||
doi: 10.1016/0921-8777(92)90073-c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1372095" target="_blank">1372095</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichothiodystrophy%202%2C%20photosensitive%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 (41)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39704188">Transcription-coupled repair - mechanisms of action, regulation, and associated human disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakazawa Y,
|
||
Oka Y,
|
||
Matsunaga T,
|
||
Ogi T</span><br />
|
||
<span class="medgenPMjournal">FEBS Lett</span>
|
||
2025 Jan;599(2):166-167.
|
||
Epub 2024 Dec 20
|
||
doi: 10.1002/1873-3468.15073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39704188" target="_blank">39704188</a><a href="/pmc/articles/PMC11771657" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26903188">Ocular manifestations of genetic skin disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jen M,
|
||
Nallasamy S</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2016 Mar-Apr;34(2):242-75.
|
||
Epub 2015 Dec 2
|
||
doi: 10.1016/j.clindermatol.2015.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26903188" target="_blank">26903188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25296907">Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hosseini M,
|
||
Ezzedine K,
|
||
Taieb A,
|
||
Rezvani HR</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2015 Feb;135(2):341-351.
|
||
Epub 2014 Oct 9
|
||
doi: 10.1038/jid.2014.365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25296907" target="_blank">25296907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1372108">The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson RT,
|
||
Squires S</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1992 Mar;273(2):97-118.
|
||
doi: 10.1016/0921-8777(92)90072-b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1372108" target="_blank">1372108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1372096">A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arlett CF,
|
||
Harcourt SA,
|
||
Cole J,
|
||
Green MH,
|
||
Anstey AV</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1992 Mar;273(2):127-35.
|
||
doi: 10.1016/0921-8777(92)90074-d.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1372096" target="_blank">1372096</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichothiodystrophy%202%2C%20photosensitive%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 (33)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25534312">Molecular regulation of UV-induced DNA repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah P,
|
||
He YY</span><br />
|
||
<span class="medgenPMjournal">Photochem Photobiol</span>
|
||
2015 Mar-Apr;91(2):254-64.
|
||
Epub 2015 Jan 14
|
||
doi: 10.1111/php.12406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25534312" target="_blank">25534312</a><a href="/pmc/articles/PMC4355264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25296907">Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hosseini M,
|
||
Ezzedine K,
|
||
Taieb A,
|
||
Rezvani HR</span><br />
|
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<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2015 Feb;135(2):341-351.
|
||
Epub 2014 Oct 9
|
||
doi: 10.1038/jid.2014.365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25296907" target="_blank">25296907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20118892">The versatile DNA nucleotide excision repair (NER) and its medical significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falik-Zaccai TC,
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||
Keren Z,
|
||
Slor H</span><br />
|
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<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
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2009 Dec;7(2):37-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20118892" target="_blank">20118892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18429798">A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charles CA,
|
||
Connelly EA,
|
||
Aber CG,
|
||
Herman AR,
|
||
Schachner LA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2008 Mar-Apr;25(2):264-7.
|
||
doi: 10.1111/j.1525-1470.2008.00649.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18429798" target="_blank">18429798</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9384696">Multiple involvement of nucleotide excision repair enzymes: clinical manifestations of molecular intricacies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jaspers NG</span><br />
|
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<span class="medgenPMjournal">Cytokines Mol Ther</span>
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1996 Jun;2(2):115-9.
|
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<span class="bold">PMID: </span><a href="/pubmed/9384696" target="_blank">9384696</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichothiodystrophy%202%2C%20photosensitive%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21959366">Ocular manifestations of trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brooks BP,
|
||
Thompson AH,
|
||
Clayton JA,
|
||
Chan CC,
|
||
Tamura D,
|
||
Zein WM,
|
||
Blain D,
|
||
Hadsall C,
|
||
Rowan J,
|
||
Bowles KE,
|
||
Khan SG,
|
||
Ueda T,
|
||
Boyle J,
|
||
Oh KS,
|
||
DiGiovanna JJ,
|
||
Kraemer KH</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2011 Dec;118(12):2335-42.
|
||
Epub 2011 Sep 28
|
||
doi: 10.1016/j.ophtha.2011.05.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21959366" target="_blank">21959366</a><a href="/pmc/articles/PMC3230678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18329345">Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kleijer WJ,
|
||
Laugel V,
|
||
Berneburg M,
|
||
Nardo T,
|
||
Fawcett H,
|
||
Gratchev A,
|
||
Jaspers NG,
|
||
Sarasin A,
|
||
Stefanini M,
|
||
Lehmann AR</span><br />
|
||
<span class="medgenPMjournal">DNA Repair (Amst)</span>
|
||
2008 May 3;7(5):744-50.
|
||
Epub 2008 Mar 10
|
||
doi: 10.1016/j.dnarep.2008.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18329345" target="_blank">18329345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11443545">Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graham JM Jr,
|
||
Anyane-Yeboa K,
|
||
Raams A,
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||
Appeldoorn E,
|
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Kleijer WJ,
|
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Garritsen VH,
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Busch D,
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Edersheim TG,
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Jaspers NG</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2001 Aug;69(2):291-300.
|
||
Epub 2001 Jul 3
|
||
doi: 10.1086/321295.
|
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<span class="bold">PMID: </span><a href="/pubmed/11443545" target="_blank">11443545</a><a href="/pmc/articles/PMC1235303" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7802014">Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kleijer WJ,
|
||
Beemer FA,
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Boom BW</span><br />
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<span class="medgenPMjournal">Am J Med Genet</span>
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1994 Aug 15;52(2):227-30.
|
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doi: 10.1002/ajmg.1320520220.
|
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<span class="bold">PMID: </span><a href="/pubmed/7802014" target="_blank">7802014</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1372096">A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arlett CF,
|
||
Harcourt SA,
|
||
Cole J,
|
||
Green MH,
|
||
Anstey AV</span><br />
|
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<span class="medgenPMjournal">Mutat Res</span>
|
||
1992 Mar;273(2):127-35.
|
||
doi: 10.1016/0921-8777(92)90074-d.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1372096" target="_blank">1372096</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichothiodystrophy%202%2C%20photosensitive%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36810639">Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pascolini G,
|
||
Gaudioso F,
|
||
Baldi M,
|
||
Alario D,
|
||
Dituri F,
|
||
Novelli A,
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||
Baban A</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2023 Jun;68(6):437-443.
|
||
Epub 2023 Feb 22
|
||
doi: 10.1038/s10038-023-01134-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36810639" target="_blank">36810639</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36190439">Peripheral neuropathies associated with DNA repair disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maguina M,
|
||
Kang PB,
|
||
Tsai AC,
|
||
Pacak CA</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2023 Feb;67(2):101-110.
|
||
Epub 2022 Oct 3
|
||
doi: 10.1002/mus.27721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36190439" target="_blank">36190439</a><a href="/pmc/articles/PMC10075233" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1372096">A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arlett CF,
|
||
Harcourt SA,
|
||
Cole J,
|
||
Green MH,
|
||
Anstey AV</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1992 Mar;273(2):127-35.
|
||
doi: 10.1016/0921-8777(92)90074-d.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1372096" target="_blank">1372096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1372095">DNA repair investigations in nine Italian patients affected by trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanini M,
|
||
Giliani S,
|
||
Nardo T,
|
||
Marinoni S,
|
||
Nazzaro V,
|
||
Rizzo R,
|
||
Trevisan G</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1992 Mar;273(2):119-25.
|
||
doi: 10.1016/0921-8777(92)90073-c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1372095" target="_blank">1372095</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3600693">Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV photosensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanini M,
|
||
Lagomarsini P,
|
||
Giorgi R,
|
||
Nuzzo F</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1987 Jun;191(2):117-9.
|
||
doi: 10.1016/0165-7992(87)90139-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3600693" target="_blank">3600693</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichothiodystrophy%202%2C%20photosensitive%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 (16)</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">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet 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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225344%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225344%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225344%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225344%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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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>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616390" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Trichothiodystrophy%202,%20photosensitive" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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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=(trichothiodystrophy%202%2C%20photosensitive)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=133510" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2071[geneid]" target="_blank">View ERCC3 variations in ClinVar</a></li><li><a href="/nuccore/170014700" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=616390" target="_blank">Coriell Institute for Medical Research</a></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>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/trichothiodystrophy_2_photosensitive" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Trichothiodystrophy%202,%20photosensitive" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/trichothiodystrophy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16100/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Reviews</h3>
|
||
</div>
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