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<meta name="keywords" content="4h leukodystrophy, C5679947, disease or syndrome, pol iii-related leukodystrophies, pol iii-related leukodystrophy, polr-related leukodystrophy, polr3-related leukodystrophy, 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="POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1803536
|
||
ConceptID=C5679947
|
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK99167/bin/pol3-leuk-Image001.gif" src-large="/books/NBK99167/bin/pol3-leuk-Image001.jpg" /></a><br /><a href="/books/NBK99167/figure/pol3-leuk.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">POLR3-related leukodystrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803536</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:">C5679947</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>4H leukodystrophy; Pol III-Related Leukodystrophies; Pol III-related leukodystrophy; POLR-related leukodystrophy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>4H leukodystrophy (1208933000); POLR-related leukodystrophy (1208933000)</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/55703">POLR3B</a>, <a target="_blank" href="/gene/11128">POLR3A</a>, <a target="_blank" href="/gene/9533">POLR1C</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0700282" target="_blank">MONDO:0700282</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=289494">ORPHA289494</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK99167" target="_blank">POLR3-Related Leukodystrophy</a></div><div>POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome. [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/NBK99167#pol3-leuk.Summary" target="NBK99167">Summary</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.Diagnosis" target="NBK99167">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.Clinical_Characteristics" target="NBK99167">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.Genetically_Related_Allelic_Di" target="NBK99167">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.Differential_Diagnosis" target="NBK99167">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.Management" target="NBK99167">Management</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.Genetic_Counseling" target="NBK99167">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.Resources" target="NBK99167">Resources</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.Molecular_Genetics" target="NBK99167">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.Chapter_Notes" target="NBK99167">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK99167#pol3-leuk.References" target="NBK99167">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Geneviève Bernard | Adeline Vanderver <a href="/books/NBK99167" target="NBK99167" title="NCBI Bookshelf: POLR3-Related Leukodystrophy">view full author information</a></div></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 />Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve cells (neurons) covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses.<br /><br />Pol III-related leukodystrophy is a hypomyelinating disease, which means that the nervous system of affected individuals has a reduced ability to form myelin. Hypomyelination underlies most of the neurological problems associated with Pol III-related leukodystrophy. A small number of people with this disorder also have a loss of nerve cells in a part of the brain involved in coordinating movements (cerebellar atrophy) and underdevelopment (hypoplasia) of tissue that connects the left and right halves of the brain (the corpus callosum). These brain abnormalities likely contribute to the neurological problems in affected individuals.<br /><br />People with Pol III-related leukodystrophy usually have intellectual disability ranging from mild to severe, which gradually worsens over time. Some affected individuals have normal intelligence in early childhood but develop mild intellectual disability during the course of the disease.<br /><br />Difficulty coordinating movements (ataxia), which begins in childhood and slowly worsens over time, is a characteristic feature of Pol III-related leukodystrophy. Affected children typically have delayed development of motor skills such as walking. Their gait is unstable, and they usually walk with their feet wide apart for balance. Affected individuals may eventually need to use a walker or wheelchair. Involuntary rhythmic shaking (tremor) of the arms and hands may occur in this disorder. In some cases the tremor occurs mainly during movement (intention tremor); other affected individuals experience the tremor both during movement and at rest.<br /><br />Development of the teeth (dentition) is often abnormal in Pol III-related leukodystrophy, resulting in the absence of some teeth (known as hypodontia or oligodontia). Some affected infants are born with a few teeth (natal teeth), which fall out during the first weeks of life. The primary (deciduous) teeth appear later than usual, beginning at about age 2. In Pol III-related leukodystrophy, the teeth may not appear in the usual sequence, in which front teeth (incisors) appear before back teeth (molars). Instead, molars often appear first, with incisors appearing later or not at all. Permanent teeth are also delayed, and may not appear until adolescence. The teeth may also be unusually shaped.<br /><br />Some individuals with Pol III-related leukodystrophy have excessive salivation and difficulty chewing or swallowing (dysphagia), which can lead to choking. They may also have speech impairment (dysarthria). People with Pol III-related leukodystrophy often have abnormalities in eye movement, such as progressive vertical gaze palsy, which is restricted up-and-down eye movement that worsens over time. Nearsightedness is common in affected individuals, and clouding of the lens of the eyes (cataracts) has also been reported. Deterioration (atrophy) of the nerves that carry information from the eyes to the brain (the optic nerves) and seizures may also occur in this disorder.<br /><br />Hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development, may occur in Pol III-related leukodystrophy. Affected individuals have delayed development of the typical signs of puberty, such as the growth of body hair.<br /><br />People with Pol III-related leukodystrophy may have different combinations of its signs and symptoms. These varied combinations of clinical features were originally described as separate disorders. Affected individuals may be diagnosed with ataxia, delayed dentition, and hypomyelination (ADDH); hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Because these disorders were later found to have the same genetic cause, researchers now group them as variations of the single condition Pol III-related leukodystrophy. <a target="_blank" href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy">https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5679947[DISCUI]&test_type=Clinical" ref="ncbi_uid=1803536">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C5679947[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1803536">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK99167/" ref="ncbi_uid=1803536">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1803536" ref="ncbi_uid=1803536">V</a></span></span><span class="TLline">POLR3-related leukodystrophy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225305[DISCUI]&test_type=Clinical" ref="ncbi_uid=897960">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=897960" target="_blank" href="/omim/610060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK99167/" ref="ncbi_uid=897960">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=897960" ref="ncbi_uid=897960">V</a></span></span><span class="TLline"><a href="/medgen/897960" ref="tree=GTR&ncbi_uid=897960&link_uid=897960" title="View MedGen record for 'Hypomyelinating leukodystrophy 11'">Hypomyelinating leukodystrophy 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280644[DISCUI]&test_type=Clinical" ref="ncbi_uid=482274">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3280644[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=482274">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482274" target="_blank" href="/omim/614381">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1334%20OR%20NBK99167)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=482274">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482274" ref="ncbi_uid=482274">V</a></span></span><span class="TLline"><a href="/medgen/482274" ref="tree=GTR&ncbi_uid=482274&link_uid=482274" title="View MedGen record for 'Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism'">Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842862" ref="tree=GTR&ncbi_uid=1842862&link_uid=1842862" title="View MedGen record for 'Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome'">Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4706676[DISCUI]&test_type=Clinical" ref="ncbi_uid=1639554">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C4706676[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1639554">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK99167/" ref="ncbi_uid=1639554">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1639554" ref="ncbi_uid=1639554">V</a></span></span><span class="TLline"><a href="/medgen/1639554" ref="tree=GTR&ncbi_uid=1639554&link_uid=1639554" title="View MedGen record for 'Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome'">Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/502456" ref="tree=GTR&ncbi_uid=502456&link_uid=502456" title="View MedGen record for 'Odontoleukodystrophy'">Odontoleukodystrophy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842823" ref="tree=GTR&ncbi_uid=1842823&link_uid=1842823" title="View MedGen record for 'Tremor-ataxia-central hypomyelination syndrome'">Tremor-ataxia-central hypomyelination syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span><ul><li><span class="TLline"><a href="/medgen/866800" ref="tree=MeSH" title="MedGen record for Abnormal CNS myelination">Abnormal CNS myelination</a></span><ul><li><span class="TLline"><a href="/medgen/6070" ref="tree=MeSH" title="MedGen record for Leukodystrophy">Leukodystrophy</a></span><ul><li><span class="matched_ds">POLR3-related leukodystrophy</span><ul><li><span class="TLline"><a href="/medgen/897960" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 11">Hypomyelinating leukodystrophy 11</a></span></li><li><span class="TLline"><a href="/medgen/482274" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism">Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism</a></span></li><li><span class="TLline"><a href="/medgen/1842862" ref="tree=MeSH" title="MedGen record for Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome">Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639554" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome">Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome</a></span></li><li><span class="TLline"><a href="/medgen/502456" ref="tree=MeSH" title="MedGen record for Odontoleukodystrophy">Odontoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842823" ref="tree=MeSH" title="MedGen record for Tremor-ataxia-central hypomyelination syndrome">Tremor-ataxia-central hypomyelination syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39062571">Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Coulombe B,
|
||
Chapleau A,
|
||
Macintosh J,
|
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Durcan TM,
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||
Poitras C,
|
||
Moursli YA,
|
||
Faubert D,
|
||
Pinard M,
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Bernard G</span><br />
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<span class="medgenPMjournal">Biomolecules</span>
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||
2024 Jul 17;14(7)
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||
doi: 10.3390/biom14070857.
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||
<span class="bold">PMID: </span><a href="/pubmed/39062571" target="_blank">39062571</a><a href="/pmc/articles/PMC11274857" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22polr3-related%20leukodystrophy%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 (1)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://publications.aap.org/pediatrics/article/148/3/e2021053126/181065/Leukodystrophies-in-Children-Diagnosis-Care-and" target="_blank">Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.</a></h3>
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||
</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/39322381">Rare forms of hypomyelination and delayed myelination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mura E,
|
||
Parazzini C,
|
||
Tonduti D</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
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||
2024;204:225-252.
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||
doi: 10.1016/B978-0-323-99209-1.00002-8.
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||
<span class="bold">PMID: </span><a href="/pubmed/39322381" target="_blank">39322381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39062571">Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coulombe B,
|
||
Chapleau A,
|
||
Macintosh J,
|
||
Durcan TM,
|
||
Poitras C,
|
||
Moursli YA,
|
||
Faubert D,
|
||
Pinard M,
|
||
Bernard G</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2024 Jul 17;14(7)
|
||
doi: 10.3390/biom14070857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39062571" target="_blank">39062571</a><a href="/pmc/articles/PMC11274857" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36988728">A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang H,
|
||
Wu Z,
|
||
Li X,
|
||
Huang Y,
|
||
Li J,
|
||
He F,
|
||
Feng L,
|
||
Xiao B,
|
||
Tang W</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Sep;44(9):3363-3368.
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||
Epub 2023 Mar 29
|
||
doi: 10.1007/s10072-023-06767-z.
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||
<span class="bold">PMID: </span><a href="/pubmed/36988728" target="_blank">36988728</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35691411">A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoon Han J,
|
||
Gon Cho Y,
|
||
Park J,
|
||
Jang W</span><br />
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||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2022 Aug 1;533:15-21.
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Epub 2022 Jun 9
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doi: 10.1016/j.cca.2022.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35691411" target="_blank">35691411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33005949">Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Pelletier F,
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||
Perrier S,
|
||
Cayami FK,
|
||
Mirchi A,
|
||
Saikali S,
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||
Tran LT,
|
||
Ulrick N,
|
||
Guerrero K,
|
||
Rampakakis E,
|
||
van Spaendonk RML,
|
||
Naidu S,
|
||
Pohl D,
|
||
Gibson WT,
|
||
Demos M,
|
||
Goizet C,
|
||
Tejera-Martin I,
|
||
Potic A,
|
||
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<span class="bold">PMID: </span><a href="/pubmed/33005949" target="_blank">33005949</a><a href="/pmc/articles/PMC7823228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22POLR3-related%20leukodystrophy%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39322381">Rare forms of hypomyelination and delayed myelination.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mura E,
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<div class="nl"><a target="_blank" href="/pubmed/36988728">A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang H,
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Wu Z,
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Li X,
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Huang Y,
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Li J,
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2023 Sep;44(9):3363-3368.
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Epub 2023 Mar 29
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<span class="bold">PMID: </span><a href="/pubmed/36988728" target="_blank">36988728</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36042647">Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bai H,
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Li D,
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Zheng Y,
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Jiang X</span><br />
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2022 Aug 26;101(34):e30350.
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<div class="nl"><a target="_blank" href="/pubmed/32573057">Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt JL,
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Pizzino A,
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Hobson GM,
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Thiffault I,
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Fang T,
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2020 Aug;182(8):1906-1912.
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Epub 2020 Jun 23
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<span class="bold">PMID: </span><a href="/pubmed/32573057" target="_blank">32573057</a><a href="/pmc/articles/PMC11348680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22POLR3-related%20leukodystrophy%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39322379">Inherited white matter disorders: Hypomyelination (myelin disorders).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Perrier S,
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Gauquelin L,
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<span class="bold">PMID: </span><a href="/pubmed/39322379" target="_blank">39322379</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/32483275">Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hiraide T,
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Nakashima M,
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Ikeda T,
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Tanaka D,
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Osaka H,
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Saitsu H</span><br />
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2020 Oct;65(10):921-925.
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Epub 2020 Jun 1
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<span class="bold">PMID: </span><a href="/pubmed/32483275" target="_blank">32483275</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22POLR3-related%20leukodystrophy%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39429022">Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lentini L,
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Toutounchi H,
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Chapleau A,
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<span class="medgenPMjournal">J Child Neurol</span>
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Epub 2024 Oct 21
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<span class="bold">PMID: </span><a href="/pubmed/39429022" target="_blank">39429022</a><a href="/pmc/articles/PMC11590388" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36988728">A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang H,
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||
Wu Z,
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Li X,
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Huang Y,
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Li J,
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He F,
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Feng L,
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Xiao B,
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Tang W</span><br />
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||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Sep;44(9):3363-3368.
|
||
Epub 2023 Mar 29
|
||
doi: 10.1007/s10072-023-06767-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36988728" target="_blank">36988728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32483275">Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hiraide T,
|
||
Nakashima M,
|
||
Ikeda T,
|
||
Tanaka D,
|
||
Osaka H,
|
||
Saitsu H</span><br />
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<span class="medgenPMjournal">J Hum Genet</span>
|
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2020 Oct;65(10):921-925.
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||
Epub 2020 Jun 1
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||
doi: 10.1038/s10038-020-0786-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32483275" target="_blank">32483275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31932101">POLR3A variants in striatal involvement without diffuse hypomyelination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hiraide T,
|
||
Kubota K,
|
||
Kono Y,
|
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Watanabe S,
|
||
Matsubayashi T,
|
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Nakashima M,
|
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Kaname T,
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Fukao T,
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Shimozawa N,
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Ogata T,
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Saitsu H</span><br />
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<span class="medgenPMjournal">Brain Dev</span>
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2020 Apr;42(4):363-368.
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||
Epub 2020 Jan 10
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doi: 10.1016/j.braindev.2019.12.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31932101" target="_blank">31932101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31438894">Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu S,
|
||
Bai Z,
|
||
Dong X,
|
||
Yang D,
|
||
Chen H,
|
||
Hua J,
|
||
Zhou L,
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Lv H</span><br />
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<span class="medgenPMjournal">BMC Pediatr</span>
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2019 Aug 22;19(1):289.
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doi: 10.1186/s12887-019-1656-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31438894" target="_blank">31438894</a><a href="/pmc/articles/PMC6704677" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22POLR3-related%20leukodystrophy%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 (5)</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">
|
||
<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=C5679947%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5679947%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5679947%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5679947%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<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="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=289494" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=POLR3-related%20leukodystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<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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