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Sequencing revealed a novel <jats:italic>RASA1<\/jats:italic> mutation in the RASGAP domain that results in a loss of function of p120\u2010RasGap. This report expands our current genetic and clinical understanding of CM\u2013AVM in pregnancy. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37203","type":"journal-article","created":{"date-parts":[[2015,6,19]],"date-time":"2015-06-19T17:12:34Z","timestamp":1434733954000},"page":"2440-2443","source":"Crossref","is-referenced-by-count":22,"title":["Maternal and fetal capillary malformation\u2013arteriovenous malformation (CM\u2013AVM) due to a novel <i>RASA1<\/i> mutation presenting with prenatal non\u2010immune hydrops fetalis"],"prefix":"10.1002","volume":"167","author":[{"given":"Rachael T.","family":"Overcash","sequence":"first","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Department of Reproductive Medicine University of California San Diego California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher K.","family":"Gibu","sequence":"additional","affiliation":[{"name":"Division of Neonatology Department of Pediatrics University of California San Diego California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn C.","family":"Jones","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of California San Diego California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gladys A.","family":"Ramos","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Department of Reproductive Medicine University of California San Diego California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara S.","family":"Andreasen","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of California San Diego California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,11]]},"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":"10.1002\/ajmg.a.35935"},{"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","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20746"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22431"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1949.01520280095013"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.009"}],"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.37203","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37203","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T11:10:35Z","timestamp":1694344235000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,11]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1002\/ajmg.a.37203"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37203","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,11]]}}}