{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T16:02:55Z","timestamp":1774627375159,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,11,22]],"date-time":"2024-11-22T00:00:00Z","timestamp":1732233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Capillary malformation\u2010arteriovenous malformation (CM\u2010AVM) is a genetic condition predominantly attributed to variations in the <jats:italic>RASA1<\/jats:italic> or <jats:italic>EPHB4<\/jats:italic> genes. We identified three genetic variations: a variation in the RASA1 (c.2603+1G&gt;A) and two novel variations in the EPHB4 (c.53\u20102A&gt;G and c.2222T&gt;C), expanding the spectrum of variants associated with CM\u2010AVM. Additionally, we found that the presence of EPHB4 variations in these two families, alongside a documented history of Bier spots, highlights the impact of genetic factors on disease phenotype. We also conducted 595\u2009nm pulsed dye laser therapy on the proband 2, and observed that facial telangiectasia was significantly reduced after the laser treatment. We aim to enhance the understanding of the disease through case studies of three families.<\/jats:p>","DOI":"10.1111\/1346-8138.17549","type":"journal-article","created":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T06:49:41Z","timestamp":1732344581000},"page":"377-382","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Variations in <scp><i>RASA1<\/i><\/scp> and <scp><i>EPHB4<\/i><\/scp> in Chinese patients with capillary malformation\u2010arteriovenous malformation"],"prefix":"10.1111","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-6504-6662","authenticated-orcid":false,"given":"Qin","family":"Zeng","sequence":"first","affiliation":[{"name":"Department of Dermatology, National Children's Medical Center Children's Hospital of Fudan University  Shanghai China"},{"name":"School of Medicine Anhui University of Science and Technology  Huainan Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenmin","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Children's Medical Center Children's Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Children's Medical Center Children's Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Children's Medical Center Children's Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongsong","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Dermatology Anhui Provincial Children's Hospital  Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiaoyu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Children's Medical Center Children's Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"He","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Children's Medical Center Children's Hospital of Fudan University  Shanghai China"},{"name":"School of Medicine Anhui University of Science and Technology  Huainan Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7735-7839","authenticated-orcid":false,"given":"Cheng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Children's Medical Center Children's Hospital of Fudan University  Shanghai China"},{"name":"Department of Dermatology Anhui Provincial Children's Hospital  Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Children's Medical Center Children's Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anpedi.2013.03.013"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2014.08.018"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"e_1_2_7_6_1","article-title":"Aqeeli W capillary malformation\u2010arteriovenous malformation syndrome","volume":"13","author":"Alluhaibi R","year":"2021","journal-title":"Cureus"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16326"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20746"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08493.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s41065-018-0062-8"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy020"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12368"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.03.009"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.2340\/actadv.v102.1126"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2016.04.013"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12188"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.17549","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T17:29:49Z","timestamp":1747675789000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.17549"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,22]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1111\/1346-8138.17549"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.17549","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,22]]},"assertion":[{"value":"2024-07-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}