{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T10:37:35Z","timestamp":1788863855300,"version":"build-2803163510"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T00:00:00Z","timestamp":1580083200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Diffuse capillary malformation with overgrowth (DCMO) is a clinical diagnosis describing patients with multiple, extensive capillary malformations (CMs) associated with overgrowth and foot anomalies. The purpose of the study was to identify somatic variants in DCMO. Skin containing CM and overgrown subcutaneous adipose tissue was collected from patients with DCMO. Exons from 447 cancer\u2010related genes were sequenced using OncoPanel. Variant\u2010specific droplet digital PCR (ddPCR) independently confirmed the variants and determined variant allele frequencies (VAF). One subject contained a somatic\n                    <jats:italic>PIK3CA<\/jats:italic>\n                    p.G106V variant. A second patient had a\n                    <jats:italic>PIK3CA<\/jats:italic>\n                    p.D350G variant. VAF was 27% to 29% in skin and 16% to 28% in subcutaneous adipose. Variants were enriched in endothelial cells (VAF 50%\u201051%) compared to nonendothelial cells (1%\u20108%). DCMO is associated with somatic\n                    <jats:italic>PIK3CA<\/jats:italic>\n                    variants and should be considered on the\n                    <jats:italic>PIK3CA<\/jats:italic>\n                    \u2010related overgrowth spectrum (PROS). Variants are present in both skin and subcutaneous adipose and are enriched in endothelial cells.\n                  <\/jats:p>","DOI":"10.1111\/cge.13702","type":"journal-article","created":{"date-parts":[[2020,1,7]],"date-time":"2020-01-07T08:03:14Z","timestamp":1578384194000},"page":"736-740","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Diffuse capillary malformation with overgrowth contains somatic\n                    <i>PIK3CA<\/i>\n                    variants"],"prefix":"10.1111","volume":"97","author":[{"given":"Jeremy A.","family":"Goss","sequence":"first","affiliation":[{"name":"Department of Plastic &amp; Oral Surgery Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis J.","family":"Konczyk","sequence":"additional","affiliation":[{"name":"Department of Plastic &amp; Oral Surgery Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Smits","sequence":"additional","affiliation":[{"name":"Department of Plastic &amp; Oral Surgery Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher L.","family":"Sudduth","sequence":"additional","affiliation":[{"name":"Department of Plastic &amp; Oral Surgery Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joyce","family":"Bischoff","sequence":"additional","affiliation":[{"name":"Vascular Biology Program and Department of Surgery Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn G.","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arin K.","family":"Greene","sequence":"additional","affiliation":[{"name":"Department of Plastic &amp; Oral Surgery Boston Children's Hospital, Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1213507"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0000000000001868"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10456-016-9538-1"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.006"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.12.069"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.05.030"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2016-0527-OA"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e318192988e"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0000000000001558"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2331"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.220"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36836"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.4333"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2012.11.037"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.30781"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.23388"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11252"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.123109.111"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11412"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12634"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2332"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36552"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12819"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1150799"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.018"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0297-9"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0217-9"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13702","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13702","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13702","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13702","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T22:26:38Z","timestamp":1694039198000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13702"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,27]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1111\/cge.13702"],"URL":"https:\/\/doi.org\/10.1111\/cge.13702","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13702\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13702\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13702\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13702\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13702\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13702\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13702\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,27]]},"assertion":[{"value":"2019-09-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}