{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T08:34:59Z","timestamp":1768293299903,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,1,15]],"date-time":"2016-01-15T00:00:00Z","timestamp":1452816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report the case of a young girl who was presented with complex clinical symptoms caused by the deletion of contiguous genes: <jats:italic>RASA1<\/jats:italic> and <jats:italic>MEF2C<\/jats:italic>, located on chromosome 5q14.3. Specifically, the diagnosis of her skin disorder and vascular malformations involving central nervous system is consistent with a RASopathy. The child's neurological manifestations are observed in most patients suffering from 5q14.3 by deletion or mutation of the <jats:italic>MEF2C<\/jats:italic> gene. A review of the literature allowed us to conclude that the contiguous deletion of genes <jats:italic>RASA1<\/jats:italic> and <jats:italic>MEF2C<\/jats:italic> fulfills the criteria for the diagnosis of a Neurocutaneous syndrome as proposed by Carr et al. [2011]. We also assessed the penetrance of <jats:italic>RASA1<\/jats:italic> and clinical manifestations of <jats:italic>MEF2C<\/jats:italic> according to the type of deletion. This child described presents the complete symptomatology of both deleted genes. We would also like to highlight the progression of the disorder. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37472","type":"journal-article","created":{"date-parts":[[2016,1,16]],"date-time":"2016-01-16T18:13:35Z","timestamp":1452968015000},"page":"688-693","source":"Crossref","is-referenced-by-count":11,"title":["5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of <i>RASA1<\/i> and <i>MEF2C<\/i>: A progressive disease"],"prefix":"10.1002","volume":"170","author":[{"given":"Rita","family":"Ilari","sequence":"first","affiliation":[{"name":"Department of Child Neurology Hospital Italiano de, Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Agosta","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Hospital Italiano de, Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Bacino","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,1,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0344-7"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.03.004"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000336339.08878.2d"},{"key":"e_1_2_6_5_1","first-page":"164","article-title":"5q14. 3 Neurocutaneous Syndrome: A novel contiguous gene syndrome cause by simultaneous deletion of RASA1 and MEF2C","volume":"155","author":"Carr ChW","year":"2011","journal-title":"Am J Med Genet A"},{"key":"e_1_2_6_6_1","first-page":"247","article-title":"QuesIndromees","volume":"3","author":"Cordisco MR","year":"2005","journal-title":"Dermatol Pediatr Lat"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.90"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08493.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ad.2011.02.010"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069732"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01413.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31071"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","unstructured":"Santa MariaV CurottoL RojasM Cortes C.2001. 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