https://m2.mtmt.hu/ hun 2026-09-22 09:34 JournalArticle 34428271 VALIDATED true 0 false 2026-05-23T10:33:51.580+0000 2024-07-04T10:07:50.290+0000 2023-12-11T08:43:24.773+0000 true 10076846 DUPLUM Marton Tamás /api/author/10076846 Author Marton Tamás (Perinatális patológia) true 2026-01-08T08:16:48.206+0000 2026-01-08T08:16:48.206+0000 2024-07-04T10:07:50.299+0000 true 10069305 Kondor Zóra /api/admin/10069305 Admin Kondor Zóra (SE_KK_Admin5_KZ, admin) true true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Gibb, Jack true true /api/journal/10007110 REVIEWED JOURNAL OF MEDICAL GENETICS 0022-2593 1468-6244 true false 10007110 false 10007110 true 0022-2593 1468-6244 Journal FOREIGN 61 4 405 409 405 5 2024 Homozygous plakophilin-2 ( PKP2 ) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic PKP2 variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2 variants cause a lethal, perinatal-onset cardiomyopathy. true 2023 true true true false false NONE 2026-05-23 false 1 0 1 0 1 1 1 1 1 1 1 0 0 0 1 0 1 0 1 0 0 0 0 Folyóiratcikk Journal Article 24 1 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2024 0 1 0 1 0 Q1 false 10076846 false false false 2024-03-10T08:43:25.707+0000 Szülészeti és Nőgyógyászati Klinika Baross utca... (SE / AOK / K / SZSZNK) 1 10 1 13 0 true Language 10002 /api/language/10002 Angol Angol English true 2 true PersonAuthorship 113214848 /api/authorship/113214848 Gibb, Jack ✉ 1 0.077 true false true Gibb Jack true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214849 /api/authorship/113214849 Wall, Elizabeth* 2 0.077 true false false Wall Elizabeth true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214850 /api/authorship/113214850 Fields, Ella 3 0.07692308 false false false Fields Ella true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214851 /api/authorship/113214851 Seale, Anna 4 0.07692308 false false false Seale Anna true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214852 /api/authorship/113214852 Armstrong, Catherine 5 0.07692308 false false false Armstrong Catherine true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214853 /api/authorship/113214853 Bamber, Andrew 6 0.07692308 false false false Bamber Andrew true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214854 /api/authorship/113214854 Daubeney, Piers 7 0.07692308 false false false Daubeney Piers true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214855 /api/authorship/113214855 Jacobs-Pearson, Makaela 8 0.07692308 false false false Jacobs-Pearson Makaela true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214856 /api/authorship/113214856 Marton, Tamas [Marton, Tamás (Perinatális patol...), szerző] Szülészeti és Nőgyógyászati Klinika Baross utca... (SE / AOK / K / SZSZNK) 9 0.077 false false false Author 10076846 /api/author/10076846 Marton Tamás (Perinatális patológia) Marton Tamás DUPLUM true true Marton Tamas true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214857 /api/authorship/113214857 Stals, Karen 10 0.07692308 false false false Stals Karen true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214858 /api/authorship/113214858 Low, Karen** 11 0.077 false true false Low Karen true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214859 /api/authorship/113214859 Kaski, Juan Pablo** 12 0.077 false true false Kaski Juan Pablo true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 113214860 /api/authorship/113214860 Spentzou, Georgia 13 0.07692308 false true false Spentzou Georgia true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PublicationIdentifier 25093427 /api/publicationidentifier/25093427 DOI: 10.1136/jmg-2023-109493 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true IDENTICAL 10.1136/jmg-2023-109493 https://doi.org/10.1136/jmg-2023-109493 false true PublicationIdentifier 25128526 /api/publicationidentifier/25128526 WoS: 001111133100001 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001111133100001 https://www.webofscience.com/wos/woscc/full-record/001111133100001 true true PublicationIdentifier 25128525 /api/publicationidentifier/25128525 Scopus: 85178576802 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85178576802 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85178576802 true true PublicationIdentifier 25128529 /api/publicationidentifier/25128529 PubMed: 38050058 PlainSource 17 /api/publicationsource/17 PubMed PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 38050058 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=38050058&dopt=Abstract true true SjrRating 11466289 /api/sjrrating/11466289 sjr:Q1 (2024) Scopus - Genetics (clinical) JOURNAL OF MEDICAL GENETICS 0022-2593 1468-6244 17 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 2716 /api/classificationexternal/2716 Scopus - Genetics (clinical) true 2716 true Q1 DIRECT true true Reference 47863028 /api/reference/47863028 1. 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(2024) JOURNAL OF MEDICAL GENETICS 0022-2593 1468-6244 61 4 405-409<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" >Gibb Jack ✉ </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Wall Elizabeth^* </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Fields Ella </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Seale Anna </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Armstrong Catherine </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Bamber Andrew </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Daubeney Piers </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Jacobs-Pearson Makaela </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10076846"><a href="/gui2/?type=authors&mode=browse&sel=10076846" target="_blank">Marton Tamas (<span class="authorship-author-name">Marton Tamás</span> <span class="authorAux-mtmt"> Perinatális patológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Szülészeti és Nőgyógyászati Klinika">SZSZNK</span>/Szülészeti és Nőgyógyászati Klinika Baross utcai részleg</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Stals Karen </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Low Karen^** </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Kaski Juan Pablo^** </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Spentzou Georgia </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34428271" target="_blank">Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects</a></div> <div> <span class="journal-title">JOURNAL OF MEDICAL GENETICS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0022-2593">0022-2593</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1468-6244">1468-6244</a>)</span>: <span class="journal-volume">61</span> <span class="journal-issue">4</span> <span class="page"> pp 405-409 </span> <span class="year">(2024)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1136/jmg-2023-109493" target="_blank" href="https://doi.org/10.1136/jmg-2023-109493"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001111133100001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001111133100001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85178576802" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85178576802"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="38050058" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=38050058&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Genetics (clinical)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Genetics&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 1</span> | Független: 0 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 1 | Scopus jelölt:&nbsp;1 | WoS/Scopus jelölt:&nbsp;1 | DOI jelölt:&nbsp;1 </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 34428271</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Utolsó módosítás: 2024.07.04. 12:07 Kondor Zóra (SE_KK_Admin5_KZ, admin) </div> </div></div>