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<meta name="keywords" content="C4273958, disease or syndrome, mc4r deficiency, obesity due to melanocortin 4 receptor deficiency, 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="Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway. Activation of the MC4R plays a key role in the maintenance of energy homeostasis and is associated with suppression of food intake." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=903905
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||
ConceptID=C4273958
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Obesity due to melanocortin 4 receptor deficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903905</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:">C4273958</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>MC4R deficiency; obesity due to melanocortin 4 receptor deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Obesity due to melanocortin 4 receptor deficiency (717269008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019115" target="_blank">MONDO:0019115</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=71529">ORPHA71529</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway. Activation of the MC4R plays a key role in the maintenance of energy homeostasis and is associated with suppression of food intake. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</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/36053514">Long-Term MC4R Agonist Treatment in POMC-Deficient Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kühnen P,
|
||
Clément K</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Sep 1;387(9):852-854.
|
||
doi: 10.1056/NEJMc2207442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36053514" target="_blank">36053514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30642682">Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kühnen P,
|
||
Krude H,
|
||
Biebermann H</span><br />
|
||
<span class="medgenPMjournal">Trends Mol Med</span>
|
||
2019 Feb;25(2):136-148.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1016/j.molmed.2018.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30642682" target="_blank">30642682</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23774329">The melanocortin-4 receptor as target for obesity treatment: a systematic review of emerging pharmacological therapeutic options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fani L,
|
||
Bak S,
|
||
Delhanty P,
|
||
van Rossum EF,
|
||
van den Akker EL</span><br />
|
||
<span class="medgenPMjournal">Int J Obes (Lond)</span>
|
||
2014 Feb;38(2):163-9.
|
||
Epub 2013 Jun 18
|
||
doi: 10.1038/ijo.2013.80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23774329" target="_blank">23774329</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(obesity%20due%20to%20melanocortin%204%20receptor%20deficiency)%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 (7)</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/34694010">Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with delayed gastric emptying.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seelig E,
|
||
Henning E,
|
||
Keogh JM,
|
||
Gillett D,
|
||
Shin E,
|
||
Buscombe J,
|
||
van der Klaauw AA,
|
||
Farooqi IS</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2022 Feb;96(2):270-275.
|
||
Epub 2021 Oct 25
|
||
doi: 10.1111/cen.14615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34694010" target="_blank">34694010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33258945">Obesity, kidney dysfunction, and inflammation: interactions in hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall JE,
|
||
Mouton AJ,
|
||
da Silva AA,
|
||
Omoto ACM,
|
||
Wang Z,
|
||
Li X,
|
||
do Carmo JM</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Res</span>
|
||
2021 Jul 7;117(8):1859-1876.
|
||
doi: 10.1093/cvr/cvaa336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33258945" target="_blank">33258945</a><a href="/pmc/articles/PMC8262632" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33137293">Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clément K,
|
||
van den Akker E,
|
||
Argente J,
|
||
Bahm A,
|
||
Chung WK,
|
||
Connors H,
|
||
De Waele K,
|
||
Farooqi IS,
|
||
Gonneau-Lejeune J,
|
||
Gordon G,
|
||
Kohlsdorf K,
|
||
Poitou C,
|
||
Puder L,
|
||
Swain J,
|
||
Stewart M,
|
||
Yuan G,
|
||
Wabitsch M,
|
||
Kühnen P;
|
||
Setmelanotide POMC and LEPR Phase 3 Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Dec;8(12):960-970.
|
||
Epub 2020 Oct 30
|
||
doi: 10.1016/S2213-8587(20)30364-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33137293" target="_blank">33137293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30642682">Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kühnen P,
|
||
Krude H,
|
||
Biebermann H</span><br />
|
||
<span class="medgenPMjournal">Trends Mol Med</span>
|
||
2019 Feb;25(2):136-148.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1016/j.molmed.2018.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30642682" target="_blank">30642682</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19136981">Fructose: should we worry?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bray GA</span><br />
|
||
<span class="medgenPMjournal">Int J Obes (Lond)</span>
|
||
2008 Dec;32 Suppl 7:S127-31.
|
||
doi: 10.1038/ijo.2008.248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19136981" target="_blank">19136981</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20melanocortin%204%20receptor%20deficiency%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 (40)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36349991">CRTC1 deficiency, specifically in melanocortin-4 receptor-expressing cells, induces hyperphagia, obesity, and insulin resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsumura S,
|
||
Miyakita M,
|
||
Miyamori H,
|
||
Kyo S,
|
||
Ishikawa F,
|
||
Sasaki T,
|
||
Jinno T,
|
||
Tanaka J,
|
||
Fujita K,
|
||
Yokokawa T,
|
||
Goto T,
|
||
Momma K,
|
||
Takenaka S,
|
||
Inoue K</span><br />
|
||
<span class="medgenPMjournal">FASEB J</span>
|
||
2022 Dec;36(12):e22645.
|
||
doi: 10.1096/fj.202200617R.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36349991" target="_blank">36349991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35137184">Obesity Due to Steroid Receptor Coactivator-1 Deficiency Is Associated With Endocrine and Metabolic Abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cacciottolo TM,
|
||
Henning E,
|
||
Keogh JM,
|
||
Bel Lassen P,
|
||
Lawler K,
|
||
Bounds R,
|
||
Ahmed R,
|
||
Perdikari A,
|
||
Mendes de Oliveira E,
|
||
Smith M,
|
||
Godfrey EM,
|
||
Johnson E,
|
||
Hodson L,
|
||
Clément K,
|
||
van der Klaauw AA,
|
||
Farooqi IS</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 May 17;107(6):e2532-e2544.
|
||
doi: 10.1210/clinem/dgac067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35137184" target="_blank">35137184</a><a href="/pmc/articles/PMC9113786" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34614324">Obesity-Associated GNAS Mutations and the Melanocortin Pathway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendes de Oliveira E,
|
||
Keogh JM,
|
||
Talbot F,
|
||
Henning E,
|
||
Ahmed R,
|
||
Perdikari A,
|
||
Bounds R,
|
||
Wasiluk N,
|
||
Ayinampudi V,
|
||
Barroso I,
|
||
Mokrosiński J,
|
||
Jyothish D,
|
||
Lim S,
|
||
Gupta S,
|
||
Kershaw M,
|
||
Matei C,
|
||
Partha P,
|
||
Randell T,
|
||
McAulay A,
|
||
Wilson LC,
|
||
Cheetham T,
|
||
Crowne EC,
|
||
Clayton P,
|
||
Farooqi IS</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2021 Oct 21;385(17):1581-1592.
|
||
Epub 2021 Oct 6
|
||
doi: 10.1056/NEJMoa2103329.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34614324" target="_blank">34614324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29031731">Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collet TH,
|
||
Dubern B,
|
||
Mokrosinski J,
|
||
Connors H,
|
||
Keogh JM,
|
||
Mendes de Oliveira E,
|
||
Henning E,
|
||
Poitou-Bernert C,
|
||
Oppert JM,
|
||
Tounian P,
|
||
Marchelli F,
|
||
Alili R,
|
||
Le Beyec J,
|
||
Pépin D,
|
||
Lacorte JM,
|
||
Gottesdiener A,
|
||
Bounds R,
|
||
Sharma S,
|
||
Folster C,
|
||
Henderson B,
|
||
O'Rahilly S,
|
||
Stoner E,
|
||
Gottesdiener K,
|
||
Panaro BL,
|
||
Cone RD,
|
||
Clément K,
|
||
Farooqi IS,
|
||
Van der Ploeg LHT</span><br />
|
||
<span class="medgenPMjournal">Mol Metab</span>
|
||
2017 Oct;6(10):1321-1329.
|
||
Epub 2017 Jul 8
|
||
doi: 10.1016/j.molmet.2017.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29031731" target="_blank">29031731</a><a href="/pmc/articles/PMC5641599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19803416">Melanocortin-4 receptor mutations in obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santini F,
|
||
Maffei M,
|
||
Pelosini C,
|
||
Salvetti G,
|
||
Scartabelli G,
|
||
Pinchera A</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
2009;48:95-109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19803416" target="_blank">19803416</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20melanocortin%204%20receptor%20deficiency%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 (26)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33684608">The melanocortin pathway and energy homeostasis: From discovery to obesity therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeo GSH,
|
||
Chao DHM,
|
||
Siegert AM,
|
||
Koerperich ZM,
|
||
Ericson MD,
|
||
Simonds SE,
|
||
Larson CM,
|
||
Luquet S,
|
||
Clarke I,
|
||
Sharma S,
|
||
Clément K,
|
||
Cowley MA,
|
||
Haskell-Luevano C,
|
||
Van Der Ploeg L,
|
||
Adan RAH</span><br />
|
||
<span class="medgenPMjournal">Mol Metab</span>
|
||
2021 Jun;48:101206.
|
||
Epub 2021 Mar 6
|
||
doi: 10.1016/j.molmet.2021.101206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33684608" target="_blank">33684608</a><a href="/pmc/articles/PMC8050006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33137293">Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clément K,
|
||
van den Akker E,
|
||
Argente J,
|
||
Bahm A,
|
||
Chung WK,
|
||
Connors H,
|
||
De Waele K,
|
||
Farooqi IS,
|
||
Gonneau-Lejeune J,
|
||
Gordon G,
|
||
Kohlsdorf K,
|
||
Poitou C,
|
||
Puder L,
|
||
Swain J,
|
||
Stewart M,
|
||
Yuan G,
|
||
Wabitsch M,
|
||
Kühnen P;
|
||
Setmelanotide POMC and LEPR Phase 3 Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Dec;8(12):960-970.
|
||
Epub 2020 Oct 30
|
||
doi: 10.1016/S2213-8587(20)30364-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33137293" target="_blank">33137293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29031731">Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collet TH,
|
||
Dubern B,
|
||
Mokrosinski J,
|
||
Connors H,
|
||
Keogh JM,
|
||
Mendes de Oliveira E,
|
||
Henning E,
|
||
Poitou-Bernert C,
|
||
Oppert JM,
|
||
Tounian P,
|
||
Marchelli F,
|
||
Alili R,
|
||
Le Beyec J,
|
||
Pépin D,
|
||
Lacorte JM,
|
||
Gottesdiener A,
|
||
Bounds R,
|
||
Sharma S,
|
||
Folster C,
|
||
Henderson B,
|
||
O'Rahilly S,
|
||
Stoner E,
|
||
Gottesdiener K,
|
||
Panaro BL,
|
||
Cone RD,
|
||
Clément K,
|
||
Farooqi IS,
|
||
Van der Ploeg LHT</span><br />
|
||
<span class="medgenPMjournal">Mol Metab</span>
|
||
2017 Oct;6(10):1321-1329.
|
||
Epub 2017 Jul 8
|
||
doi: 10.1016/j.molmet.2017.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29031731" target="_blank">29031731</a><a href="/pmc/articles/PMC5641599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18230891">Monogenic human obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farooqi IS</span><br />
|
||
<span class="medgenPMjournal">Front Horm Res</span>
|
||
2008;36:1-11.
|
||
doi: 10.1159/000115333.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18230891" target="_blank">18230891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15660521">Monogenic obesity in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farooqi IS,
|
||
O'Rahilly S</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2005;56:443-58.
|
||
doi: 10.1146/annurev.med.56.062904.144924.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15660521" target="_blank">15660521</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20melanocortin%204%20receptor%20deficiency%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39813316">Orthopedia regulates melanocortin 4 receptor transcription and energy homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu B,
|
||
Lawler K,
|
||
Wyler SC,
|
||
Li L,
|
||
Swati,
|
||
Keogh JM,
|
||
Chen X,
|
||
Wan R,
|
||
Almeida AG,
|
||
Kirsch S,
|
||
Mountjoy KG,
|
||
Elmquist JK,
|
||
Farooqi IS,
|
||
Liu C</span><br />
|
||
<span class="medgenPMjournal">Sci Transl Med</span>
|
||
2025 Jan 15;17(781):eadr6459.
|
||
doi: 10.1126/scitranslmed.adr6459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39813316" target="_blank">39813316</a><a href="/pmc/articles/PMC11797978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33137293">Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clément K,
|
||
van den Akker E,
|
||
Argente J,
|
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Bahm A,
|
||
Chung WK,
|
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Connors H,
|
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De Waele K,
|
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Farooqi IS,
|
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Gonneau-Lejeune J,
|
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Gordon G,
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Kohlsdorf K,
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Poitou C,
|
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Puder L,
|
||
Swain J,
|
||
Stewart M,
|
||
Yuan G,
|
||
Wabitsch M,
|
||
Kühnen P;
|
||
Setmelanotide POMC and LEPR Phase 3 Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Dec;8(12):960-970.
|
||
Epub 2020 Oct 30
|
||
doi: 10.1016/S2213-8587(20)30364-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33137293" target="_blank">33137293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31641982">Updates on Monogenic Obesity in a Multifactorial Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baxter J,
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Armijo PR,
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Flores L,
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Krause C,
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Samreen S,
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<span class="medgenPMjournal">Obes Surg</span>
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2019 Dec;29(12):4077-4083.
|
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doi: 10.1007/s11695-019-04200-z.
|
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<span class="bold">PMID: </span><a href="/pubmed/31641982" target="_blank">31641982</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/21047921">Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Martinelli CE,
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Keogh JM,
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Greenfield JR,
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Henning E,
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van der Klaauw AA,
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Blackwood A,
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O'Rahilly S,
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Camacho-Hübner C,
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2011 Jan;96(1):E181-8.
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<span class="bold">PMID: </span><a href="/pubmed/21047921" target="_blank">21047921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15660521">Monogenic obesity in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farooqi IS,
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O'Rahilly S</span><br />
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<span class="medgenPMjournal">Annu Rev Med</span>
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2005;56:443-58.
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|
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<span class="bold">PMID: </span><a href="/pubmed/15660521" target="_blank">15660521</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20melanocortin%204%20receptor%20deficiency%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39813316">Orthopedia regulates melanocortin 4 receptor transcription and energy homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu B,
|
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Lawler K,
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Wyler SC,
|
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Li L,
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Swati,
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Keogh JM,
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Chen X,
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Wan R,
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Almeida AG,
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Kirsch S,
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Mountjoy KG,
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||
Elmquist JK,
|
||
Farooqi IS,
|
||
Liu C</span><br />
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||
<span class="medgenPMjournal">Sci Transl Med</span>
|
||
2025 Jan 15;17(781):eadr6459.
|
||
doi: 10.1126/scitranslmed.adr6459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39813316" target="_blank">39813316</a><a href="/pmc/articles/PMC11797978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34614324">Obesity-Associated GNAS Mutations and the Melanocortin Pathway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendes de Oliveira E,
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||
Keogh JM,
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Talbot F,
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Henning E,
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Ahmed R,
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Perdikari A,
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Bounds R,
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Wasiluk N,
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Ayinampudi V,
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Barroso I,
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Mokrosiński J,
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Jyothish D,
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Lim S,
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Gupta S,
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Kershaw M,
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||
Matei C,
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||
Partha P,
|
||
Randell T,
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||
McAulay A,
|
||
Wilson LC,
|
||
Cheetham T,
|
||
Crowne EC,
|
||
Clayton P,
|
||
Farooqi IS</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2021 Oct 21;385(17):1581-1592.
|
||
Epub 2021 Oct 6
|
||
doi: 10.1056/NEJMoa2103329.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34614324" target="_blank">34614324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33030294">Eating behaviour in contrasting adiposity phenotypes: Monogenic obesity and congenital generalized lipodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos JL,
|
||
Cortés VA</span><br />
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||
<span class="medgenPMjournal">Obes Rev</span>
|
||
2021 Jan;22(1):e13114.
|
||
Epub 2020 Aug 2
|
||
doi: 10.1111/obr.13114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33030294" target="_blank">33030294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33137293">Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clément K,
|
||
van den Akker E,
|
||
Argente J,
|
||
Bahm A,
|
||
Chung WK,
|
||
Connors H,
|
||
De Waele K,
|
||
Farooqi IS,
|
||
Gonneau-Lejeune J,
|
||
Gordon G,
|
||
Kohlsdorf K,
|
||
Poitou C,
|
||
Puder L,
|
||
Swain J,
|
||
Stewart M,
|
||
Yuan G,
|
||
Wabitsch M,
|
||
Kühnen P;
|
||
Setmelanotide POMC and LEPR Phase 3 Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Dec;8(12):960-970.
|
||
Epub 2020 Oct 30
|
||
doi: 10.1016/S2213-8587(20)30364-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33137293" target="_blank">33137293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14749512">Monogenic human obesity syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farooqi IS,
|
||
O'Rahilly S</span><br />
|
||
<span class="medgenPMjournal">Recent Prog Horm Res</span>
|
||
2004;59:409-24.
|
||
doi: 10.1210/rp.59.1.409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14749512" target="_blank">14749512</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20melanocortin%204%20receptor%20deficiency%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 (39)</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/23774329">The melanocortin-4 receptor as target for obesity treatment: a systematic review of emerging pharmacological therapeutic options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fani L,
|
||
Bak S,
|
||
Delhanty P,
|
||
van Rossum EF,
|
||
van den Akker EL</span><br />
|
||
<span class="medgenPMjournal">Int J Obes (Lond)</span>
|
||
2014 Feb;38(2):163-9.
|
||
Epub 2013 Jun 18
|
||
doi: 10.1038/ijo.2013.80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23774329" target="_blank">23774329</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20melanocortin%204%20receptor%20deficiency%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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||
</div>
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