{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:15:59Z","timestamp":1790615759538,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T00:00:00Z","timestamp":1623369600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T00:00:00Z","timestamp":1623369600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Oncogenic RAS variants lead to constitutive overactivation and increased signal transduction into downstream pathways. They are found as somatic driver events in various types of human cancer. In a somatic mosaic status, the same RAS variants have been associated with a wide spectrum of focal or segmental tissue dysplasia and overgrowth including various types of congenital nevi, vascular malformations, and other changes (mosaic RASopathies). We present a 3\u2010year\u2010old male patient with segmental overgrowth of the subcutaneous fatty tissue of the right lower extremity with colocalized arteriovenous and capillary malformations and dysplastic draining veins in combination with talipes equinovarus of the right foot. In tissue biopsies of the affected extremity, we identified a mosaic\n                    <jats:italic>KRAS<\/jats:italic>\n                    variant, c.35G&gt;A (p.Gly12Asp), while this variant was absent in the DNA extracted from a biopsy of the normal extremity. This report provides further evidence for the wide clinical and phenotypic variability associated with mosaic\n                    <jats:italic>KRAS<\/jats:italic>\n                    variants. The described pattern confirms that the combination of segmental overgrowth and vascular anomalies in the form of arteriovenous and capillary malformations is a possible manifestation of a mosaic RASopathy. The accurate genetic diagnosis is crucial for molecular\u2010targeted therapy, which might be a future therapeutic target for mosaic RASopathies.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62386","type":"journal-article","created":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T04:42:15Z","timestamp":1623386535000},"page":"3122-3128","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Mosaic\n                    <scp>RASopathy<\/scp>\n                    due to\n                    <scp>\n                      <i>KRAS<\/i>\n                    <\/scp>\n                    variant\n                    <scp>G12D<\/scp>\n                    with segmental overgrowth and associated peripheral vascular malformations"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7067-2203","authenticated-orcid":false,"given":"Vanessa Franziska","family":"Schmidt","sequence":"first","affiliation":[{"name":"Department of Radiology University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse","family":"Wieland","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter A.","family":"Wohlgemuth","sequence":"additional","affiliation":[{"name":"Department of Radiology Martin Luther University Halle\u2010Wittenberg  Halle Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Ricke","sequence":"additional","affiliation":[{"name":"Department of Radiology University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7228-6963","authenticated-orcid":false,"given":"Moritz","family":"Wildgruber","sequence":"additional","affiliation":[{"name":"Department of Radiology University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-9269","authenticated-orcid":false,"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI98589"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20748"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.14021"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.075374"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-017-2732-4"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annonc.2020.03.291"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000509992"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0146-5"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a005256"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2316"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61485"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.23108"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2020.03.010"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/dth.13762"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36836"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36552"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31824dd86c"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.006"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31743"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/mop.0000000000000812"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.4103\/idoj.IDOJ_520_19"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0539-3"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1709449"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13119"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2109"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/1093526620986502"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12826"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nephro.2017.02.004"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.Cd-20-0442"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e32834881dd"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1158\/1541-7786.Mcr-18-0739"}],"container-title":["American 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