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<meta name="keywords" content="C5830676, bhd2, birt-hogg-dube syndrome 2, disease or syndrome, prdm10, 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="Birt-Hogg-Dube syndrome-2 (BHD2) is characterized by lipomatosis and fibrofolliculomas as well as renal cell carcinoma and other cancers (van de Beek et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of BHD, see BHD1 (135150)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1841312
|
||
ConceptID=C5830676
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Birt-Hogg-Dube syndrome 2<span class="h1sub">(BHD2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841312</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.">C5830676</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>BHD2</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="PRDM10 - ID: 56980 - NCBI Gene" href="/gene/56980" class="medgenPMinfo">PRDM10</a> (11q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0800455" target="_blank">MONDO:0800455</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620459" target="_blank">620459</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">Birt-Hogg-Dube syndrome-2 (BHD2) is characterized by lipomatosis and fibrofolliculomas as well as renal cell carcinoma and other cancers (van de Beek et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of BHD, see BHD1 (135150). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</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_76018"><div><strong>Clear cell carcinoma of kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>76018</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.">C0279702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/76018">Feature record</a> | <a href="/medgen?term=%22Clear%20cell%20carcinoma%20of%20kidney%22%5BClinical%20Features%5D%20OR%2076018%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138032"><div><strong>Fibrofolliculoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138032</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.">C0346011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138032">Feature record</a> | <a href="/medgen?term=%22Fibrofolliculoma%22%5BClinical%20Features%5D%20OR%20138032%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_677074"><div><strong>Multiple lipomas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>677074</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.">C0745730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple lipomas (a type of benign tissue made of fatty tissue).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/677074">Feature record</a> | <a href="/medgen?term=%22Multiple%20lipomas%22%5BClinical%20Features%5D%20OR%20677074%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_312363"><div><strong>Perifollicular fibroma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>312363</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.">C1704236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/312363">Feature record</a> | <a href="/medgen?term=%22Perifollicular%20fibroma%22%5BClinical%20Features%5D%20OR%20312363%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107790"><div><strong>Pulmonary cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107790</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.">C0546483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107790">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20cyst%22%5BClinical%20Features%5D%20OR%20107790%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary cyst</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_76018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clear cell carcinoma of kidney</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibrofolliculoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_677074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple lipomas</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_312363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perifollicular fibroma</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="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/1830278" ref="tree=GTR&ncbi_uid=1830278&link_uid=1830278" title="View MedGen record for 'Multiple fibrofolliculomas'">Multiple fibrofolliculomas</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0346010[DISCUI]&test_type=Clinical" ref="ncbi_uid=91070">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=91070" target="_blank" href="/omim/135150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1522/" ref="ncbi_uid=91070">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=91070" ref="ncbi_uid=91070">V</a></span></span><span class="TLline"><a href="/medgen/91070" ref="tree=GTR&ncbi_uid=91070&link_uid=91070" title="View MedGen record for 'Birt-Hogg-Dube syndrome'">Birt-Hogg-Dube syndrome</a></span><ul><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 Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1522/" ref="ncbi_uid=1051978">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1051978" ref="ncbi_uid=1051978">V</a></span></span><span class="TLline"><a href="/medgen/1051978" ref="tree=GTR&ncbi_uid=1051978&link_uid=1051978" title="View MedGen record for 'Birt-Hogg-Dube syndrome 1'">Birt-Hogg-Dube syndrome 1</a></span></li><li class="matched_ds"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=1841312" target="_blank" href="/omim/618319">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Birt-Hogg-Dube syndrome 2</span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/908923" ref="tree=MeSH" title="MedGen record for Ciliopathy">Ciliopathy</a></span><ul><li><span class="TLline"><a href="/medgen/91070" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome">Birt-Hogg-Dube syndrome</a></span><ul><li><span class="matched_ds">Birt-Hogg-Dube syndrome 2</span></li></ul></li></ul></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/39168181">Diffuse Cystic Lung Disease: A Clinical Guide to Recognition and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franciosi AN,
|
||
Gupta N,
|
||
Murphy DJ,
|
||
Wikenheiser-Brokamp KA,
|
||
McCarthy C</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2025 Feb;167(2):529-547.
|
||
Epub 2024 Aug 19
|
||
doi: 10.1016/j.chest.2024.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39168181" target="_blank">39168181</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29680948">Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maher ER</span><br />
|
||
<span class="medgenPMjournal">World J Urol</span>
|
||
2018 Dec;36(12):1891-1898.
|
||
Epub 2018 Apr 21
|
||
doi: 10.1007/s00345-018-2288-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29680948" target="_blank">29680948</a><a href="/pmc/articles/PMC6280834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28264540">Diagnosis and treatment of cystic lung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park S,
|
||
Lee EJ</span><br />
|
||
<span class="medgenPMjournal">Korean J Intern Med</span>
|
||
2017 Mar;32(2):229-238.
|
||
Epub 2017 Feb 28
|
||
doi: 10.3904/kjim.2016.242.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28264540" target="_blank">28264540</a><a href="/pmc/articles/PMC5339473" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(birt-hogg-dube%20syndrome%202)%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 (9)</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/32279295">New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kennedy JC,
|
||
Khabibullin D,
|
||
Boku Y,
|
||
Shi W,
|
||
Henske EP</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2020 Apr;41(2):247-255.
|
||
Epub 2020 Apr 12
|
||
doi: 10.1055/s-0040-1708500.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279295" target="_blank">32279295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28970150">FLCN: The causative gene for Birt-Hogg-Dubé syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt LS,
|
||
Linehan WM</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2018 Jan 15;640:28-42.
|
||
Epub 2017 Sep 29
|
||
doi: 10.1016/j.gene.2017.09.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28970150" target="_blank">28970150</a><a href="/pmc/articles/PMC5682220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28981355">Abdominal Imaging Findings in Neurocutaneous Syndromes: Looking Below the Diaphragm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gosein M,
|
||
Harris A,
|
||
Pang E,
|
||
Maharaj P,
|
||
Chang S</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
2017 Dec;209(6):1197-1208.
|
||
Epub 2017 Oct 5
|
||
doi: 10.2214/AJR.17.18404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28981355" target="_blank">28981355</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26877139">Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kennedy JC,
|
||
Khabibullin D,
|
||
Henske EP</span><br />
|
||
<span class="medgenPMjournal">Semin Cell Dev Biol</span>
|
||
2016 Apr;52:47-52.
|
||
Epub 2016 Feb 10
|
||
doi: 10.1016/j.semcdb.2016.02.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26877139" target="_blank">26877139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25519092">Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dal Sasso AA,
|
||
Belém LC,
|
||
Zanetti G,
|
||
Souza CA,
|
||
Escuissato DL,
|
||
Irion KL,
|
||
Guimarães MD,
|
||
Marchiori E</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
2015 Mar;109(3):289-96.
|
||
Epub 2014 Dec 9
|
||
doi: 10.1016/j.rmed.2014.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25519092" target="_blank">25519092</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%202%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 (80)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37838258">Birt-Hogg-Dubé syndrome in skin of color: Literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pagan AD,
|
||
Obi A,
|
||
McKinley J,
|
||
Oladunjoye E,
|
||
Kasago I,
|
||
Gulati N,
|
||
Phelps RG,
|
||
Svidzinski C</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2024 Feb;90(2):412-414.
|
||
Epub 2023 Oct 13
|
||
doi: 10.1016/j.jaad.2023.09.081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37838258" target="_blank">37838258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37055093">Lymphangioleiomyomatosis and Other Cystic Lung Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koslow M,
|
||
Lynch DA,
|
||
Cool CD,
|
||
Groshong SD,
|
||
Downey GP</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2023 May;43(2):359-377.
|
||
doi: 10.1016/j.iac.2023.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37055093" target="_blank">37055093</a><a href="/pmc/articles/PMC10863428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30681372">The Genetics of Pneumothorax.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boone PM,
|
||
Scott RM,
|
||
Marciniak SJ,
|
||
Henske EP,
|
||
Raby BA</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jun 1;199(11):1344-1357.
|
||
doi: 10.1164/rccm.201807-1212CI.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30681372" target="_blank">30681372</a><a href="/pmc/articles/PMC6543724" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28981355">Abdominal Imaging Findings in Neurocutaneous Syndromes: Looking Below the Diaphragm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gosein M,
|
||
Harris A,
|
||
Pang E,
|
||
Maharaj P,
|
||
Chang S</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
2017 Dec;209(6):1197-1208.
|
||
Epub 2017 Oct 5
|
||
doi: 10.2214/AJR.17.18404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28981355" target="_blank">28981355</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12751355">Birt-Hogg-Dubé syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musse L</span><br />
|
||
<span class="medgenPMjournal">Dermatol Nurs</span>
|
||
2003 Apr;15(2):178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12751355" target="_blank">12751355</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%202%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 (119)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38272046">Immunomodulatory therapy in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS, MIS-C; RECOVERY): a randomised, controlled, open-label, platform trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">RECOVERY Collaborative Group</span><br />
|
||
<span class="medgenPMjournal">Lancet Child Adolesc Health</span>
|
||
2024 Mar;8(3):190-200.
|
||
Epub 2024 Jan 22
|
||
doi: 10.1016/S2352-4642(23)00316-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38272046" target="_blank">38272046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36028846">Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sriram JD,
|
||
van de Beek I,
|
||
Johannesma PC,
|
||
van Werkum MH,
|
||
van der Wel TJWT,
|
||
Wessels EM,
|
||
Gille HJJP,
|
||
Houweling AC,
|
||
Postmus PE,
|
||
Smit HJM</span><br />
|
||
<span class="medgenPMjournal">BMC Pulm Med</span>
|
||
2022 Aug 26;22(1):325.
|
||
doi: 10.1186/s12890-022-02107-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36028846" target="_blank">36028846</a><a href="/pmc/articles/PMC9414409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27178696">Skin manifestations associated with kidney cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin A,
|
||
Burgess EF</span><br />
|
||
<span class="medgenPMjournal">Semin Oncol</span>
|
||
2016 Jun;43(3):408-12.
|
||
Epub 2016 Feb 23
|
||
doi: 10.1053/j.seminoncol.2016.02.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27178696" target="_blank">27178696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26608100">Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasumi H,
|
||
Baba M,
|
||
Hasumi Y,
|
||
Furuya M,
|
||
Yao M</span><br />
|
||
<span class="medgenPMjournal">Int J Urol</span>
|
||
2016 Mar;23(3):204-10.
|
||
Epub 2015 Nov 25
|
||
doi: 10.1111/iju.13015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26608100" target="_blank">26608100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26024606">Cystic and nodular lung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards JC,
|
||
Lynch DA,
|
||
Chung JH</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2015 Jun;36(2):299-312, ix.
|
||
Epub 2015 Apr 2
|
||
doi: 10.1016/j.ccm.2015.02.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26024606" target="_blank">26024606</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%202%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279295">New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kennedy JC,
|
||
Khabibullin D,
|
||
Boku Y,
|
||
Shi W,
|
||
Henske EP</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2020 Apr;41(2):247-255.
|
||
Epub 2020 Apr 12
|
||
doi: 10.1055/s-0040-1708500.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279295" target="_blank">32279295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31929385">Leiomyosarcoma in Birt-Hogg-Dubé Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bird LM,
|
||
Kuo DJ,
|
||
Masser-Frye D,
|
||
Mo JQ,
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||
Elster JD</span><br />
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<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
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2020 Mar;42(2):136-137.
|
||
doi: 10.1097/MPH.0000000000001715.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31929385" target="_blank">31929385</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26608100">Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasumi H,
|
||
Baba M,
|
||
Hasumi Y,
|
||
Furuya M,
|
||
Yao M</span><br />
|
||
<span class="medgenPMjournal">Int J Urol</span>
|
||
2016 Mar;23(3):204-10.
|
||
Epub 2015 Nov 25
|
||
doi: 10.1111/iju.13015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26608100" target="_blank">26608100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25119168">Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuroda N,
|
||
Furuya M,
|
||
Nagashima Y,
|
||
Gotohda H,
|
||
Kawakami F,
|
||
Moritani S,
|
||
Ota S,
|
||
Hora M,
|
||
Michal M,
|
||
Hes O,
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Nakatani Y</span><br />
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<span class="medgenPMjournal">Pol J Pathol</span>
|
||
2014 Jun;65(2):93-9.
|
||
doi: 10.5114/pjp.2014.43958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25119168" target="_blank">25119168</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23666611">Diffuse cystic lung diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryu JH,
|
||
Tian X,
|
||
Baqir M,
|
||
Xu K</span><br />
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||
<span class="medgenPMjournal">Front Med</span>
|
||
2013 Sep;7(3):316-27.
|
||
Epub 2013 May 11
|
||
doi: 10.1007/s11684-013-0269-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23666611" target="_blank">23666611</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%202%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35639097">Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savatt JM,
|
||
Shimelis H,
|
||
Moreno-De-Luca A,
|
||
Strande NT,
|
||
Oetjens MT,
|
||
Ledbetter DH,
|
||
Martin CL,
|
||
Myers SM,
|
||
Finucane BM</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Sep;24(9):1857-1866.
|
||
Epub 2022 May 31
|
||
doi: 10.1016/j.gim.2022.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35639097" target="_blank">35639097</a><a href="/pmc/articles/PMC9703446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279295">New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kennedy JC,
|
||
Khabibullin D,
|
||
Boku Y,
|
||
Shi W,
|
||
Henske EP</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2020 Apr;41(2):247-255.
|
||
Epub 2020 Apr 12
|
||
doi: 10.1055/s-0040-1708500.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279295" target="_blank">32279295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27178696">Skin manifestations associated with kidney cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin A,
|
||
Burgess EF</span><br />
|
||
<span class="medgenPMjournal">Semin Oncol</span>
|
||
2016 Jun;43(3):408-12.
|
||
Epub 2016 Feb 23
|
||
doi: 10.1053/j.seminoncol.2016.02.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27178696" target="_blank">27178696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25119168">Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuroda N,
|
||
Furuya M,
|
||
Nagashima Y,
|
||
Gotohda H,
|
||
Kawakami F,
|
||
Moritani S,
|
||
Ota S,
|
||
Hora M,
|
||
Michal M,
|
||
Hes O,
|
||
Nakatani Y</span><br />
|
||
<span class="medgenPMjournal">Pol J Pathol</span>
|
||
2014 Jun;65(2):93-9.
|
||
doi: 10.5114/pjp.2014.43958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25119168" target="_blank">25119168</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23666611">Diffuse cystic lung diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryu JH,
|
||
Tian X,
|
||
Baqir M,
|
||
Xu K</span><br />
|
||
<span class="medgenPMjournal">Front Med</span>
|
||
2013 Sep;7(3):316-27.
|
||
Epub 2013 May 11
|
||
doi: 10.1007/s11684-013-0269-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23666611" target="_blank">23666611</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%202%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 (42)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39614964">Salivary Gland Oncocytomas. A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alberto PL,
|
||
Ashim S,
|
||
Megan K,
|
||
Wei Z,
|
||
Nestor G,
|
||
Matthew Z,
|
||
Dayana M,
|
||
Marcelo V,
|
||
John W</span><br />
|
||
<span class="medgenPMjournal">Head Neck Pathol</span>
|
||
2024 Nov 30;18(1):126.
|
||
doi: 10.1007/s12105-024-01730-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39614964" target="_blank">39614964</a><a href="/pmc/articles/PMC11608208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38896302">A Possible Association of Salivary Gland Tumors and Oral Lesions with Birt-Hogg-Dube Syndrome: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peraza Labrador A,
|
||
Umorin M,
|
||
Shrestha M,
|
||
Abad Villacrez C,
|
||
Wright J</span><br />
|
||
<span class="medgenPMjournal">Head Neck Pathol</span>
|
||
2024 Jun 19;18(1):52.
|
||
doi: 10.1007/s12105-024-01657-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38896302" target="_blank">38896302</a><a href="/pmc/articles/PMC11187023" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38802529">Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang H,
|
||
Andreou A,
|
||
Bhatt R,
|
||
Whitworth J,
|
||
Yngvadottir B,
|
||
Maher ER</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Aug;32(8):887-894.
|
||
Epub 2024 May 27
|
||
doi: 10.1038/s41431-024-01628-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38802529" target="_blank">38802529</a><a href="/pmc/articles/PMC11291654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Birt-Hogg-Dube%20syndrome%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=(birt-hogg-dube%20syndrome%202)%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_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=618319" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=56980[geneid]" target="_blank">View PRDM10 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=620459" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a href="/pubmed/clinical?term=Birt-Hogg-Dube%20syndrome%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Birt-Hogg-Dube%20syndrome%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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