{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T10:26:37Z","timestamp":1774952797892,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T00:00:00Z","timestamp":1368748800000},"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":[[2013,7]]},"abstract":"ABSTRACT<\/jats:title>Capillary malformation\u2013arteriovenous malformation (CM\u2013AVM) is a newly recognized clinical entity caused by mutation of the RASA1<\/jats:italic> gene, which encodes p120\u2010RasGAP. Here we describe, for the first time, a patient with CM\u2013AVM presenting during the late stages of pregnancy with pulmonary \u201ccapillary level\u201d microvascular shunt, worsening cutaneous capillary malformations, and gross fluid overload. Sequencing revealed a novel mutation of the RASA1<\/jats:italic> gene involving a frameshift mutation in the RASGAP domain of RASA1<\/jats:italic>. This report extends our current genetic and clinical understanding of CM\u2013AVM. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35935","type":"journal-article","created":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T18:06:48Z","timestamp":1368814008000},"page":"1690-1694","source":"Crossref","is-referenced-by-count":16,"title":["A novel RASA1<\/i> mutation causing capillary malformation\u2013arteriovenous malformation (CM\u2013AVM) presenting during pregnancy"],"prefix":"10.1002","volume":"161","author":[{"given":"Hannah J.","family":"Durrington","sequence":"first","affiliation":[{"name":"Department of Medicine University of Cambridge School of Clinical Medicine Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen V.","family":"Firth","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Addenbrooke's Hospital CUHNHSFT, Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Patient","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Rosie Hospital CUHNHSFT, Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Belham","sequence":"additional","affiliation":[{"name":"Department of Cardiology Addenbrooke's Hospital CUHNHSFT, Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Jayne","sequence":"additional","affiliation":[{"name":"Lupus and Vasculitis Clinic Addenbrooke's Hospital CUHNHSFT, Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nigel","family":"Burrows","sequence":"additional","affiliation":[{"name":"Department of Dermatology Addenbrooke's Hospital CUHNHSFT, Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas W.","family":"Morrell","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Cambridge School of Clinical Medicine Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edwin R.","family":"Chilvers","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Cambridge School of Clinical Medicine Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,5,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2186"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0700-z"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.009"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200817"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(02)00415-8"},{"key":"e_1_2_5_8_1","article-title":"Hereditary hemorrhagic telangiectasia presenting as high output cardiac failure during pregnancy","author":"Goussous T","year":"2009","journal-title":"Cardiol Res"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208743"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/377695a0"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.58.2.218"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20746"},{"key":"e_1_2_5_13_1","first-page":"879","article-title":"Medical complications of pregnancy in hereditary haemorrhagic telangiectasia","volume":"88","author":"Shovlin CL","year":"1995","journal-title":"Q J Med"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2821624"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35935","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35935","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:53:23Z","timestamp":1697615603000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35935"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,17]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1002\/ajmg.a.35935"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35935","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,17]]}}}