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RAS p21 protein activator 1 (<jats:italic>RASA1<\/jats:italic>) and ephrin type\u2010B receptor 4 (<jats:italic>EPHB4<\/jats:italic>) genes are implicated. We present a child with CM\u2010AVM, due to <jats:italic>EPHB4<\/jats:italic> mutation, and Ebstein's anomaly. Although <jats:italic>EPHB4<\/jats:italic> is a known effector of vascular remodeling, its contribution to cardiogenesis is still being explored. Further research is needed to determine causality of Ebstein's anomaly in the setting of CM\u2010AVM due to <jats:italic>EPHB4<\/jats:italic> mutation.<\/jats:p>","DOI":"10.1111\/pde.14723","type":"journal-article","created":{"date-parts":[[2021,8,2]],"date-time":"2021-08-02T14:52:10Z","timestamp":1627915930000},"page":"1305-1307","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A case of capillary malformation\u2010arteriovenous malformation and Ebstein\u2019s anomaly in a child with <i>EphB4<\/i> mutation"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4169-418X","authenticated-orcid":false,"given":"Yousuf","family":"Sherwani","sequence":"first","affiliation":[{"name":"West Virginia University School of Medicine Morgantown WV USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Jenkins","sequence":"additional","affiliation":[{"name":"West Virginia University School of Medicine Department of Dermatology Morgantown WV USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayodele","family":"Adelanwa","sequence":"additional","affiliation":[{"name":"West Virginia School of Medicine Department of Pathology Morgantown WV USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David Marshall","family":"Burch","sequence":"additional","affiliation":[{"name":"West Virginia School of Medicine Department of Pathology Morgantown WV USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nita Ray","family":"Chaudhuri","sequence":"additional","affiliation":[{"name":"West Virginia University School of Medicine Department of Pediatrics Morgantown WV USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zachary","family":"Zinn","sequence":"additional","affiliation":[{"name":"West Virginia University School of Medicine Department of Dermatology Morgantown WV USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14428"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1222722110"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22431"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420500208"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"2011","author":"Bayrak\u2010Toydemir P","key":"e_1_2_5_7_1"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20746"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35935"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.3.295"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2019.01.009"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.01.083"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2017.6425"},{"issue":"29","key":"e_1_2_5_15_1","first-page":"278","article-title":"Essential roles of EphrinB2 in mammalian heart: from development to diseases","volume":"17","author":"Su S","year":"2019","journal-title":"Cell Commun Signal"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13234"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14723","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14723","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14723","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T20:05:03Z","timestamp":1696536303000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14723"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,2]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1111\/pde.14723"],"URL":"https:\/\/doi.org\/10.1111\/pde.14723","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2021,8,2]]},"assertion":[{"value":"2021-08-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}