{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T04:06:34Z","timestamp":1773029194121,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T00:00:00Z","timestamp":1534723200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004385","name":"Universiteit Gent","doi-asserted-by":"publisher","award":["01N04516"],"award-info":[{"award-number":["01N04516"]}],"id":[{"id":"10.13039\/501100004385","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>6V0A2<\/jats:italic>\u2010related cutis laxa, the skin phenotype varies from a wrinkly skin to prominent cutis laxa and typically associates with skeletal and neurological manifestations. The phenotype remains incompletely characterized, especially in adult patients. Glycosylation defects and reduced acidification of secretory vesicles contribute to the pathogenesis, but the consequences at the clinical level remain to be determined. Moreover, the morphology of the elastic fibres has not been studied in <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>6V0A2<\/jats:italic>\u2010related cutis laxa, nor its relation with potential clinical risks. We report on the extreme variability in <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>6V0A2<\/jats:italic>\u2010related cutis laxa in 10 novel patients, expand the phenotype with emphysema and von Willebrand disease and hypothesize on the pathogenesis that might link both with deficiency of glycosylation and with elastic fibre anomalies. Our data will affect clinical management of patients with <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>6V0A2<\/jats:italic>\u2010related cutis laxa.<\/jats:p>","DOI":"10.1111\/exd.13723","type":"journal-article","created":{"date-parts":[[2018,6,28]],"date-time":"2018-06-28T07:50:13Z","timestamp":1530172213000},"page":"1142-1145","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["<i><scp>ATP<\/scp>6V0A2<\/i>\u2010related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0231-6861","authenticated-orcid":false,"given":"Aude","family":"Beyens","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital  Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ester","family":"Moreno\u2010Artero","sequence":"additional","affiliation":[{"name":"Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) &amp; Department of Dermatology Department of Paediatric Social Work INSERM U1163 &amp; Institut Imagine H\u00f4pital Universitaire Necker\u2010Enfants Malades, APHP Universit\u00e9 Paris Descartes \u2010 Sorbonne Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Bodemer","sequence":"additional","affiliation":[{"name":"Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) &amp; Department of Dermatology Department of Paediatric Social Work INSERM U1163 &amp; Institut Imagine H\u00f4pital Universitaire Necker\u2010Enfants Malades, APHP Universit\u00e9 Paris Descartes \u2010 Sorbonne Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Cox","sequence":"additional","affiliation":[{"name":"West Midlands Regional Clinical Genetics Service Clinical Genetics Unit Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alper","family":"Gezdirici","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kanuni Sultan Suleyman Training and Research Hospital Health Sciences University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elif","family":"Yilmaz Gulec","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kanuni Sultan Suleyman Training and Research Hospital Health Sciences University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najoua","family":"Kahloul","sequence":"additional","affiliation":[{"name":"Center for Pediatrics CHU Farhat Hached De Sousse  Sousse Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Khau Van Kien","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Centre Hospitalier R\u00e9gional Universitaire de N\u00eemes  N\u00eemes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gonul","family":"Ogur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Faculty of Medicine Ondokuz Mayis University  Samsun Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annie","family":"Harroche","sequence":"additional","affiliation":[{"name":"Service d'H\u00e9matologie Clinique Centre de Traitement de l'H\u00e9mophilie H\u00f4pital Universitaire Necker\u2010Enfants Malades  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Vasse","sequence":"additional","affiliation":[{"name":"Department of Clinical Biology &amp; INSERM UMR\u2010S1176 Foch Hospital  Suresnes Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A\u00efcha","family":"Salhi","sequence":"additional","affiliation":[{"name":"Service de Dermatologie Facult\u00e9 de M\u00e9decine d'Alger Universit\u00e9 d'Alger  Alger Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofie","family":"Symoens","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital  Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Smail","family":"Hadj\u2010Rabia","sequence":"additional","affiliation":[{"name":"Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) &amp; Department of Dermatology Department of Paediatric Social Work INSERM U1163 &amp; Institut Imagine H\u00f4pital Universitaire Necker\u2010Enfants Malades, APHP Universit\u00e9 Paris Descartes \u2010 Sorbonne Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9743-4205","authenticated-orcid":false,"given":"Bert","family":"Callewaert","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital  Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2006.00222.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-016-0491-3"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-012-1197-8"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18030635"},{"key":"e_1_2_9_6_1","unstructured":"ATP6V0A2\u2010Related Cutis Laxa L. 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