{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T09:32:54Z","timestamp":1777973574249,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,9,18]],"date-time":"2019-09-18T00:00:00Z","timestamp":1568764800000},"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":["Head &amp; Neck"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A somatic mutation of <jats:italic>GNAQ<\/jats:italic> (c.548G&gt;A, p.Arg183Gln) plays a key role in capillary malformation development. The present study aimed to evaluate clinical manifestations of port\u2010win stain (PWS) associated with this genetic mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Skin tissue was obtained from 70 patients with capillary malformation who had been treated with excision for lesions. Droplet digital polymerase chain reaction was used to quantify the abundance of cells with the <jats:italic>GNAQ<\/jats:italic> mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The <jats:italic>GNAQ<\/jats:italic> mutation was found in 50 patients. Patients with lesions involving upper facial region, which included forehead, eyebrow, and upper eyelid, showed a significantly higher rate of positive <jats:italic>GNAQ<\/jats:italic> mutation than those not involving it. Cases with facial PWS involving all three facial regions (upper, middle, and lower) showed significantly higher positive rate of GNAQ mutation compared to those involving one or two.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Presence of the somatic mutation <jats:italic>GNAQ<\/jats:italic> p.Arg183Gln might be associated with clinical manifestations of PWS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/hed.25962","type":"journal-article","created":{"date-parts":[[2019,9,18]],"date-time":"2019-09-18T09:32:56Z","timestamp":1568799176000},"page":"4143-4150","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Phenotypic association of presence of a somatic <i>GNAQ<\/i> mutation with port\u2010wine stain distribution in capillary malformation"],"prefix":"10.1002","volume":"41","author":[{"given":"Kyeong\u2010Tae","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Plastic Surgery, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong Eun","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Hanyang University Guri Hospital, Hanynag University College of Medicine  Guri Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yeseul","family":"Eom","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ha Seong","family":"Lim","sequence":"additional","affiliation":[{"name":"Areumdaunnara Dermatology Clinic  Sungnam\u2010city, Kyunggido Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang\u2010Seok","family":"Ki","sequence":"additional","affiliation":[{"name":"GC Genome  Yongin\u2010si, Gyeonggi\u2010do Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8537-0507","authenticated-orcid":false,"given":"So Young","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,9,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.58.2.218"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cps.2010.08.007"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjps.2007.05.011"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01485.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1213507"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.95"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0133158"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0000000000001868"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2017.11.009"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40291-017-0278-8"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2015.129"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10456-016-9538-1"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.10.003"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A3415"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A3414"},{"key":"e_1_2_7_17_1","doi-asserted-by":"crossref","first-page":"3533","DOI":"10.1242\/dev.126.16.3533","article-title":"Anterior cephalic neural crest is required for forebrain viability","volume":"126","author":"Etchevers HC","year":"1999","journal-title":"Development"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2014.1244"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-010-1258-z"}],"container-title":["Head &amp; Neck"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/hed.25962","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/hed.25962","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/hed.25962","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T11:52:31Z","timestamp":1694173951000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/hed.25962"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,18]]},"references-count":18,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1002\/hed.25962"],"URL":"https:\/\/doi.org\/10.1002\/hed.25962","archive":["Portico"],"relation":{},"ISSN":["1043-3074","1097-0347"],"issn-type":[{"value":"1043-3074","type":"print"},{"value":"1097-0347","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,18]]},"assertion":[{"value":"2018-12-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}