{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:14:52Z","timestamp":1790615692955,"version":"4.1.0"},"reference-count":13,"publisher":"Cold Spring Harbor Laboratory","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:p>\n                    Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germline variants in\n                    <jats:italic>RASA1<\/jats:italic>\n                    and\n                    <jats:italic>EPHB4<\/jats:italic>\n                    . We report two individuals with Parkes Weber syndrome of the leg and primary lymphedema containing a somatic\n                    <jats:italic>KRAS<\/jats:italic>\n                    variant (NM_004985.5:c.35G &gt; A; p.Gly12Asp).\n                    <jats:italic>KRAS<\/jats:italic>\n                    variants, which cause somatic intracranial and extracranial arteriovenous malformations, also result in Parkes Weber syndrome with lymphatic malformations.\n                  <\/jats:p>","DOI":"10.1101\/mcs.a006118","type":"journal-article","created":{"date-parts":[[2021,10,5]],"date-time":"2021-10-05T00:53:07Z","timestamp":1633395187000},"page":"a006118","source":"Crossref","is-referenced-by-count":13,"title":["Parkes Weber syndrome with lymphedema caused by a somatic\n                    <i>KRAS<\/i>\n                    variant"],"prefix":"10.1101","volume":"7","author":[{"given":"Whitney","family":"Eng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher L.","family":"Sudduth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis J.","family":"Konczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J.","family":"Smits","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir H.","family":"Taghinia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J.","family":"Fishman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Alomari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise M.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arin K.","family":"Greene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2021,10,4]]},"reference":[{"key":"2021120910200927000_7.6.a006118.1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"2021120910200927000_7.6.a006118.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.018"},{"key":"2021120910200927000_7.6.a006118.3","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a005256"},{"key":"2021120910200927000_7.6.a006118.4","doi-asserted-by":"publisher","DOI":"10.1007\/s10456-019-09678-w"},{"key":"2021120910200927000_7.6.a006118.5","doi-asserted-by":"publisher","DOI":"10.1597\/06-025.1"},{"key":"2021120910200927000_7.6.a006118.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2316"},{"key":"2021120910200927000_7.6.a006118.7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40349"},{"key":"2021120910200927000_7.6.a006118.8","first-page":"121","article-title":"Lymphodysplasia and KRAS mutation: a case report and literature review","volume":"48","year":"2015","journal-title":"Lymphology"},{"key":"2021120910200927000_7.6.a006118.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1709449"},{"key":"2021120910200927000_7.6.a006118.10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20746"},{"key":"2021120910200927000_7.6.a006118.11","first-page":"331","article-title":"Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations","volume":"38","year":"2021","journal-title":"Am J Med Genet A"},{"key":"2021120910200927000_7.6.a006118.12","doi-asserted-by":"publisher","DOI":"10.1038\/ng1748"},{"key":"2021120910200927000_7.6.a006118.13","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13833"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a006118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T13:21:33Z","timestamp":1639056093000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a006118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,4]]},"references-count":13,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2021,12,9]]},"published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1101\/mcs.a006118"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a006118","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,4]]}}}