{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T14:40:15Z","timestamp":1738334415262,"version":"3.35.0"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T00:00:00Z","timestamp":1701129600000},"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":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 6\u2010year\u2010old boy with multiple capillary malformations of the port\u2010wine birthmark (PWB) type on the right leg since birth presented with a varicose vein and segmental overgrowth of the affected leg. Genetic testing on affected skin confirmed the presence of a somatic novel pathogenic <jats:italic>HRAS<\/jats:italic> 30\u2009bp in\u2010frame duplication\/insertion in the switch II domain. This case illustrates the phenotypic overlap of different genotypes and shows that somatic <jats:italic>HRAS<\/jats:italic> pathogenic variants, especially in\u2010frame duplications\/insertions, must be added to the list of the underlying causes in capillary malformations.<\/jats:p>","DOI":"10.1111\/pde.15458","type":"journal-article","created":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T06:49:30Z","timestamp":1701240570000},"page":"289-291","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Capillary malformations in a child caused by a novel <scp><i>HRAS<\/i><\/scp> mutation"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7384-7796","authenticated-orcid":false,"given":"Dirk","family":"van Gysel","sequence":"first","affiliation":[{"name":"Department of Pediatrics O.L. Vrouw Hospital Aalst  Aalst Belgium"},{"name":"Interdisciplinary Unit of Pediatric Dermatology, Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel)  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannelore","family":"de Maeseneer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics O.L. Vrouw Hospital Aalst  Aalst Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Legius","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven\u2010University of Leuven  Leuven Belgium"},{"name":"Clinical Department of Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde","family":"Brems","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven\u2010University of Leuven  Leuven Belgium"},{"name":"Clinical Department of Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.11.013"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23042358"},{"key":"e_1_2_5_4_1","unstructured":"International Society for the Study of Vascular Anomalies.ISSVA classification for vascular anomalies (Approved at the 20th ISSVA Workshop Melbourne April 2014 last revision May 2018).2019Available from:https:\/\/www.issva.org\/UserFiles\/file\/ISSVA-Classification-2018.pdf"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2019.08.455"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-44584-7"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.016"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt014"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12571"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0662-4"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15458","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T14:20:30Z","timestamp":1738333230000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,28]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1111\/pde.15458"],"URL":"https:\/\/doi.org\/10.1111\/pde.15458","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2023,11,28]]},"assertion":[{"value":"2023-05-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}