{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T04:58:48Z","timestamp":1758862728663,"version":"3.41.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T00:00:00Z","timestamp":1726012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>5q14.3 microdeletion syndrome is a rare condition involving multiple genes such as <jats:italic>MEF2C<\/jats:italic> and <jats:italic>RASA1<\/jats:italic> and is potentially classified as a neurocutaneous syndrome. Deletion of the <jats:italic>MEF2C<\/jats:italic> gene accounts for the majority of clinical manifestations, including global developmental delay, intellectual disability, seizures, and behavioral disorders. <jats:italic>RASA1<\/jats:italic> deletion is linked to capillary malformations with arteriovenous malformations (CM\u2010AVM). Until now, only 17 cases have been described with deletions of both genes. We present the first case described in Spain with the microdeletion in the 5q14.3 cytoband simultaneously affecting both <jats:italic>MEF2C<\/jats:italic> and <jats:italic>RASA1<\/jats:italic>, exhibiting the typical manifestations of this entity, and review the published cases to date.<\/jats:p>","DOI":"10.1111\/pde.15748","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T08:15:21Z","timestamp":1726042521000},"page":"158-165","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["5q14.3 Microdeletion Syndrome With Simultaneous Involvement of <i>MEF2C<\/i> and <i>RASA1<\/i>. Clinical Case and Review of the Literature"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4139-5053","authenticated-orcid":false,"given":"Jos\u00e9","family":"Gonz\u00e1lez Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"de\u2010la\u2010Rosa Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Loizate Sarrionandia","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsa","family":"Ben\u00edtez Garc\u00eda","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Herrero Moyano","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9ctor Juan","family":"Morales Moreno","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Su\u00e1rez Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Nuestra Se\u00f1ora de la Candelaria  Santa Cruz de Tenerife Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14428"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16326"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000337496"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069732"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2021.03.025"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34059"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37472"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.90"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31071"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13088"},{"issue":"11","key":"e_1_2_7_13_1","first-page":"1127","article-title":"Clinical Phenotype and Genetic Analysis of a Case of 5q14.3 Microdeletion Syndrome","volume":"38","author":"Xu X.","year":"2021","journal-title":"Chinese Journal of Medical Genetics"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000336339.08878.2d"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22431"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0196-1"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0356-y"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1601335"}],"container-title":["Pediatric 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