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<meta name="keywords" content="C5680616, disease or syndrome, mendelian syndromes with cleft lip/palate, orofacial clefting syndrome, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1842690
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ConceptID=C5680616
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mendelian syndromes with cleft lip/palate</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842690</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:">C5680616</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Orofacial clefting syndrome</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Orphanet:</td>
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<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=139039">ORPHA139039</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_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="TLline">Mendelian syndromes with cleft lip/palate</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Mendelian syndromes with cleft lip/palate</span><ul><li><span class="TLline"><a href="/medgen/66316" ref="tree=MeSH" title="MedGen record for Aase-Smith syndrome">Aase-Smith syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395439" ref="tree=MeSH" title="MedGen record for Ablepharon macrostomia syndrome">Ablepharon macrostomia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375529" ref="tree=MeSH" title="MedGen record for Abruzzo-Erickson syndrome">Abruzzo-Erickson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/324947" ref="tree=MeSH" title="MedGen record for Acrocardiofacial syndrome">Acrocardiofacial syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1378358" ref="tree=MeSH" title="MedGen record for Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome">Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340586" ref="tree=MeSH" title="MedGen record for Bailey-Bloch congenital myopathy">Bailey-Bloch congenital myopathy</a></span></li><li><span class="TLline"><a href="/medgen/343420" ref="tree=MeSH" title="MedGen record for Bamforth-Lazarus syndrome">Bamforth-Lazarus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/330655" ref="tree=MeSH" title="MedGen record for Bencze syndrome">Bencze syndrome</a></span></li><li><span class="TLline"><a href="/medgen/382936" ref="tree=MeSH" title="MedGen record for Bilateral microtia-deafness-cleft palate syndrome">Bilateral microtia-deafness-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/349302" ref="tree=MeSH" title="MedGen record for Blepharocheilodontic syndrome">Blepharocheilodontic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91261" ref="tree=MeSH" title="MedGen record for Branchiooculofacial syndrome">Branchiooculofacial syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375536" ref="tree=MeSH" title="MedGen record for Catel-Manzke syndrome">Catel-Manzke syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208652" ref="tree=MeSH" title="MedGen record for Cholestasis-pigmentary retinopathy-cleft palate syndrome">Cholestasis-pigmentary retinopathy-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1800190" ref="tree=MeSH" title="MedGen record for Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome">Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419494" ref="tree=MeSH" title="MedGen record for Cleft lip-retinopathy syndrome">Cleft lip-retinopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/905203" ref="tree=MeSH" title="MedGen record for Cleft lip/palate-deafness-sacral lipoma syndrome">Cleft lip/palate-deafness-sacral lipoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444067" ref="tree=MeSH" title="MedGen record for Cleft lip/palate-ectodermal dysplasia syndrome">Cleft lip/palate-ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444135" ref="tree=MeSH" title="MedGen record for Cleft lip/palate-intestinal malrotation-cardiopathy syndrome">Cleft lip/palate-intestinal malrotation-cardiopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375520" ref="tree=MeSH" title="MedGen record for Cleft palate with or without ankyloglossia, X-linked">Cleft palate with or without ankyloglossia, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/357895" ref="tree=MeSH" title="MedGen record for Cleft palate-large ears-small head syndrome">Cleft palate-large ears-small head syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162888" ref="tree=MeSH" title="MedGen record for Cleft palate-lateral synechia syndrome">Cleft palate-lateral synechia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930373" ref="tree=MeSH" title="MedGen record for Cleft palate-short stature-vertebral anomalies syndrome">Cleft palate-short stature-vertebral anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/266045" ref="tree=MeSH" title="MedGen record for Congenital hypoplastic anemia">Congenital hypoplastic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/390966" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 1">Diamond-Blackfan anemia 1</a></span></li><li><span class="TLline"><a href="/medgen/344104" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 2">Diamond-Blackfan anemia 2</a></span></li><li><span class="TLline"><a href="/medgen/387892" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 3">Diamond-Blackfan anemia 3</a></span></li><li><span class="TLline"><a href="/medgen/393906" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 4">Diamond-Blackfan anemia 4</a></span></li><li><span class="TLline"><a href="/medgen/382705" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 5">Diamond-Blackfan anemia 5</a></span></li><li><span class="TLline"><a href="/medgen/419918" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 6">Diamond-Blackfan anemia 6</a></span></li><li><span class="TLline"><a href="/medgen/436451" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 7">Diamond-Blackfan anemia 7</a></span></li><li><span class="TLline"><a href="/medgen/390817" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 8">Diamond-Blackfan anemia 8</a></span></li><li><span class="TLline"><a href="/medgen/412874" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 9">Diamond-Blackfan anemia 9</a></span></li><li><span class="TLline"><a href="/medgen/412873" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 10">Diamond-Blackfan anemia 10</a></span></li><li><span class="TLline"><a href="/medgen/766956" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 11">Diamond-Blackfan anemia 11</a></span></li><li><span class="TLline"><a href="/medgen/816218" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 12">Diamond-Blackfan anemia 12</a></span></li><li><span class="TLline"><a href="/medgen/863078" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 13">Diamond-Blackfan anemia 13</a></span></li><li><span class="TLline"><a href="/medgen/895657" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 14 with mandibulofacial dysostosis">Diamond-Blackfan anemia 14 with mandibulofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/902755" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 15 with mandibulofacial dysostosis">Diamond-Blackfan anemia 15 with mandibulofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/1385861" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 16">Diamond-Blackfan anemia 16</a></span></li><li><span class="TLline"><a href="/medgen/1373199" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 17">Diamond-Blackfan anemia 17</a></span></li><li><span class="TLline"><a href="/medgen/1681154" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 18">Diamond-Blackfan anemia 18</a></span></li><li><span class="TLline"><a href="/medgen/1683070" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 19">Diamond-Blackfan anemia 19</a></span></li><li><span class="TLline"><a href="/medgen/1674961" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 20">Diamond-Blackfan anemia 20</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/338115" ref="tree=MeSH" title="MedGen record for Congenital nonprogressive myopathy with Moebius and Robin sequences">Congenital nonprogressive myopathy with Moebius and Robin sequences</a></span><ul><li><span class="TLline"><a href="/medgen/1804638" ref="tree=MeSH" title="MedGen record for Carey-Fineman-Ziter syndrome 1">Carey-Fineman-Ziter syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1800921" ref="tree=MeSH" title="MedGen record for Carey-Fineman-Ziter syndrome 2">Carey-Fineman-Ziter syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375546" ref="tree=MeSH" title="MedGen record for Contractures-ectodermal dysplasia-cleft lip/palate syndrome">Contractures-ectodermal dysplasia-cleft lip/palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/387847" ref="tree=MeSH" title="MedGen record for Crane-Heise syndrome">Crane-Heise syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1642311" ref="tree=MeSH" title="MedGen record for Dysmorphism-cleft palate-loose skin syndrome">Dysmorphism-cleft palate-loose skin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1809965" ref="tree=MeSH" title="MedGen record for Dysraphism-cleft lip/palate-limb reduction defects syndrome">Dysraphism-cleft lip/palate-limb reduction defects syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120523" ref="tree=MeSH" title="MedGen record for Femoral hypoplasia - unusual facies syndrome">Femoral hypoplasia - unusual facies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462056" ref="tree=MeSH" title="MedGen record for Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome">Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome</a></span></li><li><span class="TLline"><a href="/medgen/346429" ref="tree=MeSH" title="MedGen record for Fuhrmann syndrome">Fuhrmann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341558" ref="tree=MeSH" title="MedGen record for Genito-palato-cardiac syndrome">Genito-palato-cardiac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/332131" ref="tree=MeSH" title="MedGen record for Goldberg-Shprintzen syndrome">Goldberg-Shprintzen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66314" ref="tree=MeSH" title="MedGen record for Gordon syndrome">Gordon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/335111" ref="tree=MeSH" title="MedGen record for Hartsfield-Bixler-Demyer syndrome">Hartsfield-Bixler-Demyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/344650" ref="tree=MeSH" title="MedGen record for Holzgreve-Wagner-Rehder syndrome">Holzgreve-Wagner-Rehder syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419335" ref="tree=MeSH" title="MedGen record for Hydrolethalus syndrome">Hydrolethalus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/113104" ref="tree=MeSH" title="MedGen record for Hypertelorism, microtia, facial clefting syndrome">Hypertelorism, microtia, facial clefting syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162906" ref="tree=MeSH" title="MedGen record for Juberg-Hayward syndrome">Juberg-Hayward syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208654" ref="tree=MeSH" title="MedGen record for Kapur-Toriello syndrome">Kapur-Toriello syndrome</a></span></li><li><span class="TLline"><a href="/medgen/104500" ref="tree=MeSH" title="MedGen record for Larsen syndrome">Larsen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376757" ref="tree=MeSH" title="MedGen record for Lethal omphalocele-cleft palate syndrome">Lethal omphalocele-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340874" ref="tree=MeSH" title="MedGen record for Macrosomia-microphthalmia-cleft palate syndrome">Macrosomia-microphthalmia-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341812" ref="tree=MeSH" title="MedGen record for Macular coloboma-cleft palate-hallux valgus syndrome">Macular coloboma-cleft palate-hallux valgus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355264" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis-microcephaly syndrome">Mandibulofacial dysostosis-microcephaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120513" ref="tree=MeSH" title="MedGen record for Meckel-Gruber syndrome">Meckel-Gruber syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/811346" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 1">Meckel syndrome, type 1</a></span></li><li><span class="TLline"><a href="/medgen/351059" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 2">Meckel syndrome, type 2</a></span></li><li><span class="TLline"><a href="/medgen/335402" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 3">Meckel syndrome, type 3</a></span></li><li><span class="TLline"><a href="/medgen/410003" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 4">Meckel syndrome, type 4</a></span></li><li><span class="TLline"><a href="/medgen/409740" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 5">Meckel syndrome, type 5</a></span></li><li><span class="TLline"><a href="/medgen/382942" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 6">Meckel syndrome, type 6</a></span></li><li><span class="TLline"><a href="/medgen/854220" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 8">Meckel syndrome, type 8</a></span></li><li><span class="TLline"><a href="/medgen/481785" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 9">Meckel syndrome, type 9</a></span></li><li><span class="TLline"><a href="/medgen/481666" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 10">Meckel syndrome, type 10</a></span></li><li><span class="TLline"><a href="/medgen/382217" ref="tree=MeSH" title="MedGen record for NPHP3-related Meckel-like syndrome">NPHP3-related Meckel-like syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/340833" ref="tree=MeSH" title="MedGen record for Mesomelic dwarfism-cleft palate-camptodactyly syndrome">Mesomelic dwarfism-cleft palate-camptodactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162914" ref="tree=MeSH" title="MedGen record for Microbrachycephaly-ptosis-cleft lip syndrome">Microbrachycephaly-ptosis-cleft lip syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419293" ref="tree=MeSH" title="MedGen record for Microcephaly-cleft palate syndrome">Microcephaly-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338025" ref="tree=MeSH" title="MedGen record for Oculo-palato-cerebral syndrome">Oculo-palato-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333072" ref="tree=MeSH" title="MedGen record for Oculomaxillofacial dysostosis">Oculomaxillofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/443944" ref="tree=MeSH" title="MedGen record for Odontotrichomelic syndrome">Odontotrichomelic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341234" ref="tree=MeSH" title="MedGen record for Otospondylomegaepiphyseal dysplasia, autosomal dominant">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/371972" ref="tree=MeSH" title="MedGen record for Pai syndrome">Pai syndrome</a></span></li><li><span class="TLline"><a href="/medgen/895943" ref="tree=MeSH" title="MedGen record for Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome">Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163215" ref="tree=MeSH" title="MedGen record for Pallister-W syndrome">Pallister-W syndrome</a></span></li><li><span class="TLline"><a href="/medgen/373923" ref="tree=MeSH" title="MedGen record for PARC syndrome">PARC syndrome</a></span></li><li><span class="TLline"><a href="/medgen/443969" ref="tree=MeSH" title="MedGen record for Pierre Robin syndrome-faciodigital anomaly syndrome">Pierre Robin syndrome-faciodigital anomaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336602" ref="tree=MeSH" title="MedGen record for Rapadilino syndrome">Rapadilino syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336581" ref="tree=MeSH" title="MedGen record for Richieri Costa-Pereira syndrome">Richieri Costa-Pereira syndrome</a></span></li><li><span class="TLline"><a href="/medgen/985597" ref="tree=MeSH" title="MedGen record for Roberts syndrome">Roberts syndrome</a></span></li><li><span class="TLline"><a href="/medgen/358176" ref="tree=MeSH" title="MedGen record for Robin sequence-oligodactyly syndrome">Robin sequence-oligodactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355919" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability">Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability</a></span></li><li><span class="TLline"><a href="/medgen/1842763" ref="tree=MeSH" title="MedGen record for Syngnathia-cleft palate syndrome">Syngnathia-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419362" ref="tree=MeSH" title="MedGen record for Thomas syndrome">Thomas syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639878" ref="tree=MeSH" title="MedGen record for Tibial aplasia-ectrodactyly syndrome">Tibial aplasia-ectrodactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163225" ref="tree=MeSH" title="MedGen record for Toriello-Carey syndrome">Toriello-Carey syndrome</a></span></li><li><span class="TLline"><a href="/medgen/811762" ref="tree=MeSH" title="MedGen record for Uveal coloboma-cleft lip and palate-intellectual disability">Uveal coloboma-cleft lip and palate-intellectual disability</a></span></li><li><span class="TLline"><a href="/medgen/322177" ref="tree=MeSH" title="MedGen record for Velo-facial-skeletal syndrome">Velo-facial-skeletal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395493" ref="tree=MeSH" title="MedGen record for Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome">Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395171" ref="tree=MeSH" title="MedGen record for Verloove Vanhorick-Brubakk syndrome">Verloove Vanhorick-Brubakk syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1392915" ref="tree=MeSH" title="MedGen record for Weaver-Williams syndrome">Weaver-Williams syndrome</a></span></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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/19583827">The genetics of isolated orofacial clefts: from genotypes to subphenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jugessur A,
|
||
Farlie PG,
|
||
Kilpatrick N</span><br />
|
||
<span class="medgenPMjournal">Oral Dis</span>
|
||
2009 Oct;15(7):437-53.
|
||
Epub 2009 Jul 2
|
||
doi: 10.1111/j.1601-0825.2009.01577.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19583827" target="_blank">19583827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8322817">Two consecutive hydrolethalus syndrome-affected pregnancies in a nonconsanguinous black couple: discussion of problems in prenatal differential diagnosis of midline malformation syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pryde PG,
|
||
Qureshi F,
|
||
Hallak M,
|
||
Kupsky W,
|
||
Johnson MP,
|
||
Evans MI</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1993 Jun 15;46(5):537-41.
|
||
doi: 10.1002/ajmg.1320460516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8322817" target="_blank">8322817</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mendelian%20syndromes%20with%20cleft%20lip%2Fpalate)%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 (2)</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/34923716">Genetic models and approaches to study orofacial clefts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leslie EJ</span><br />
|
||
<span class="medgenPMjournal">Oral Dis</span>
|
||
2022 Jul;28(5):1327-1338.
|
||
Epub 2022 Jan 6
|
||
doi: 10.1111/odi.14109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34923716" target="_blank">34923716</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32441374">Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lawson C,
|
||
Blakemore KJ,
|
||
Ryan R,
|
||
Hooper JE,
|
||
Tsimis M,
|
||
Jelin A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Jul;182(7):1812-1814.
|
||
Epub 2020 May 22
|
||
doi: 10.1002/ajmg.a.61624.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32441374" target="_blank">32441374</a><a href="/pmc/articles/PMC7780158" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32373937">Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dardani C,
|
||
Howe LJ,
|
||
Mukhopadhyay N,
|
||
Stergiakouli E,
|
||
Wren Y,
|
||
Humphries K,
|
||
Davies A,
|
||
Ho K,
|
||
Weinberg SM,
|
||
Marazita ML,
|
||
Mangold E,
|
||
Ludwig KU,
|
||
Relton CL,
|
||
Davey Smith G,
|
||
Lewis SJ,
|
||
Sandy J,
|
||
Davies NM,
|
||
Sharp GC</span><br />
|
||
<span class="medgenPMjournal">Int J Epidemiol</span>
|
||
2020 Aug 1;49(4):1282-1293.
|
||
doi: 10.1093/ije/dyaa047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32373937" target="_blank">32373937</a><a href="/pmc/articles/PMC7660147" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21331089">Cleft lip and palate: understanding genetic and environmental influences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dixon MJ,
|
||
Marazita ML,
|
||
Beaty TH,
|
||
Murray JC</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Genet</span>
|
||
2011 Mar;12(3):167-78.
|
||
doi: 10.1038/nrg2933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21331089" target="_blank">21331089</a><a href="/pmc/articles/PMC3086810" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1886739">Managing the cleft lip and palate patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaufman FL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1991 Oct;38(5):1127-47.
|
||
doi: 10.1016/s0031-3955(16)38191-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1886739" target="_blank">1886739</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mendelian%20syndromes%20with%20cleft%20lip%2Fpalate%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32441374">Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lawson C,
|
||
Blakemore KJ,
|
||
Ryan R,
|
||
Hooper JE,
|
||
Tsimis M,
|
||
Jelin A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Jul;182(7):1812-1814.
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<div class="nl"><a target="_blank" href="/pubmed/31215115">Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dardani C,
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<div class="nl"><a target="_blank" href="/pubmed/30067744">Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Howe LJ,
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Lee MK,
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<div class="nl"><a target="_blank" href="/pubmed/36980938">Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Manojlovic Z,
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Auslander A,
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Jin Y,
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Schmidt RJ,
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Xu Y,
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Chang S,
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Song R,
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Feigelson D,
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<span class="bold">PMID: </span><a href="/pubmed/36980938" target="_blank">36980938</a><a href="/pmc/articles/PMC10048728" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31215115">Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cox TC,
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Lidral AC,
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McCoy JC,
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Liu H,
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Cox LL,
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Zhu Y,
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Anderson RD,
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Moreno Uribe LM,
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Anand D,
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Deng M,
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Richter CT,
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Nidey NL,
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Standley JM,
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Blue EE,
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Chong JX,
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Smith JD,
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Kirk EP,
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Venselaar H,
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Krahn KN,
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van Bokhoven H,
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Zhou H,
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Cornell RA,
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Glass IA,
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Bamshad MJ,
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Nickerson DA,
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Murray JC,
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Lachke SA,
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<div class="nl"><a target="_blank" href="/pubmed/19536562">A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36980938">Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Manojlovic Z,
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Auslander A,
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Jin Y,
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Schmidt RJ,
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Xu Y,
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Chang S,
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Song R,
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Ingles SA,
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Nunes A,
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Vavra KC,
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Feigelson D,
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Rakotoarison S,
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DiBona M,
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Magee K,
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Smile O,
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Ramamonjisoa A,
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Magee Iii W</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2023 Mar 7;14(3)
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doi: 10.3390/genes14030665.
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<span class="bold">PMID: </span><a href="/pubmed/36980938" target="_blank">36980938</a><a href="/pmc/articles/PMC10048728" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36493769">Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lansdon LA,
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Dickinson A,
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Arlis S,
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Liu H,
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Hlas A,
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Hahn A,
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Girirajan S,
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Houston DW,
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Murray JC,
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Manak JR</span><br />
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2023 Jan 5;110(1):71-91.
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Epub 2022 Dec 8
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doi: 10.1016/j.ajhg.2022.11.012.
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<span class="bold">PMID: </span><a href="/pubmed/36493769" target="_blank">36493769</a><a href="/pmc/articles/PMC9892779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32373937">Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dardani C,
|
||
Howe LJ,
|
||
Mukhopadhyay N,
|
||
Stergiakouli E,
|
||
Wren Y,
|
||
Humphries K,
|
||
Davies A,
|
||
Ho K,
|
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Weinberg SM,
|
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Marazita ML,
|
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Mangold E,
|
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Ludwig KU,
|
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Relton CL,
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Davey Smith G,
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Lewis SJ,
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Sandy J,
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Davies NM,
|
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Sharp GC</span><br />
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||
<span class="medgenPMjournal">Int J Epidemiol</span>
|
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2020 Aug 1;49(4):1282-1293.
|
||
doi: 10.1093/ije/dyaa047.
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<span class="bold">PMID: </span><a href="/pubmed/32373937" target="_blank">32373937</a><a href="/pmc/articles/PMC7660147" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067744">Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Howe LJ,
|
||
Lee MK,
|
||
Sharp GC,
|
||
Davey Smith G,
|
||
St Pourcain B,
|
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Shaffer JR,
|
||
Ludwig KU,
|
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Mangold E,
|
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Marazita ML,
|
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Feingold E,
|
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Zhurov A,
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Stergiakouli E,
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Sandy J,
|
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Richmond S,
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Weinberg SM,
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Hemani G,
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Lewis SJ</span><br />
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<span class="medgenPMjournal">PLoS Genet</span>
|
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2018 Aug;14(8):e1007501.
|
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Epub 2018 Aug 1
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doi: 10.1371/journal.pgen.1007501.
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<span class="bold">PMID: </span><a href="/pubmed/30067744" target="_blank">30067744</a><a href="/pmc/articles/PMC6089455" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/28802359">Transmission analysis of TGFB1 gene polymorphisms in non-syndromic cleft lip with or without cleft palate.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Raju GT,
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Lakkakula BVKS,
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Murthy J,
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Kannan MA,
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<span class="bold">PMID: </span><a href="/pubmed/28802359" target="_blank">28802359</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mendelian%20syndromes%20with%20cleft%20lip%2Fpalate%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 (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
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|
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|
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|
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|
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|
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|
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