{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:13:50Z","timestamp":1791296030251,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,1,18]],"date-time":"2016-01-18T00:00:00Z","timestamp":1453075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1016\/j.jid.2015.11.027","type":"journal-article","created":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T04:27:43Z","timestamp":1452745663000},"page":"770-778","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":181,"title":["Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis"],"prefix":"10.1016","volume":"136","author":[{"given":"Anna C.","family":"Thomas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiqiang","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Rivi\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"O\u2019Shaughnessy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"Al-Olabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"St.-Onge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Atherton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Aubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorea","family":"Bagazgoitia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"Barbarot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Bourrat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Chiaverini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. Kling","family":"Chong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yannis","family":"Duffourd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Glover","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leopold","family":"Groesser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smail","family":"Hadj-Rabia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning","family":"Hamm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudolf","family":"Happle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imran","family":"Mushtaq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Philippe","family":"Lacour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regula","family":"Waelchli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Wobser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8693-3183","authenticated-orcid":false,"given":"Pierre","family":"Vabres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Elizabeth","family":"Patton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica A.","family":"Kinsler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2015.11.027_bib1","first-page":"394","article-title":"Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: \u201cphacomatosis achromico-melano-marmorata\u201d","volume":"18","author":"Boente Mdel","year":"2008","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib2","doi-asserted-by":"crossref","first-page":"138","DOI":"10.4103\/1817-1745.76113","article-title":"Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis","volume":"5","author":"Chhajed","year":"2010","journal-title":"J\u00a0Pediatr Neurosci"},{"key":"10.1016\/j.jid.2015.11.027_bib3","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1177\/000992288102001105","article-title":"The Mongolian spot: a study of ethnic differences and a literature review","volume":"20","author":"Cordova","year":"1981","journal-title":"Clin Pediatr (Phila)"},{"key":"10.1016\/j.jid.2015.11.027_bib4","first-page":"612","article-title":"Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example","volume":"13","author":"Danarti","year":"2003","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib5","unstructured":"Exome Aggregation Consortium. http:\/\/exac.broadinstitute.org.\u00a02015 (accessed June 2015)."},{"key":"10.1016\/j.jid.2015.11.027_bib6","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1038\/jid.2013.24","article-title":"Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell","volume":"133","author":"Groesser","year":"2013","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib7","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1111\/pde.12191","article-title":"Mongolian spots\u2014a prospective study","volume":"30","author":"Gupta","year":"2013","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib8","doi-asserted-by":"crossref","first-page":"3047","DOI":"10.1002\/ajmg.a.31970","article-title":"Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes","volume":"143A","author":"Hall","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jid.2015.11.027_bib9","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1001\/archderm.139.7.916","article-title":"Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis","volume":"139","author":"Hanson","year":"2003","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib36","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1016\/S0190-9622(87)80249-9","article-title":"Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin","volume":"16","author":"Happle","year":"1987","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib10","doi-asserted-by":"crossref","unstructured":"Happle R. Mosaicism in human skin. Berlin Heidelberg: Springer-Verlag;\u00a02013.","DOI":"10.1007\/978-3-642-38765-4"},{"key":"10.1016\/j.jid.2015.11.027_bib12","first-page":"178","article-title":"A\u00a0variant of phakomatosis pigmentovascularis","volume":"21","author":"Hasegawa","year":"1979","journal-title":"Skin Res"},{"key":"10.1016\/j.jid.2015.11.027_bib13","doi-asserted-by":"crossref","first-page":"201","DOI":"10.3928\/23258160-20130212-01","article-title":"Fluorescein angiography findings in phacomatosis pigmentovascularis","volume":"44","author":"Henry","year":"2013","journal-title":"Ophthalmic Surg Lasers Imaging Retina"},{"key":"10.1016\/j.jid.2015.11.027_bib14","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/S0190-9622(94)70063-X","article-title":"Cleft lip mongolian spot: mongolian spot associated with cleft lip","volume":"30","author":"Igawa","year":"1994","journal-title":"J\u00a0Am Acad Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib15","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1111\/j.1346-8138.2012.01677.x","article-title":"Phakomatosis pigmentovascularis Ib with left-sided hemihypertrophy, interdigital gaps and scoliosis: a unique case of phakomatosis pigmentovascularis","volume":"40","author":"Jeon","year":"2013","journal-title":"J\u00a0Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib16","doi-asserted-by":"crossref","first-page":"2229","DOI":"10.1038\/jid.2013.70","article-title":"Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS","volume":"133","author":"Kinsler","year":"2013","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib17","doi-asserted-by":"crossref","first-page":"e41","DOI":"10.1016\/j.jcjo.2012.11.015","article-title":"Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea","volume":"48","author":"Krema","year":"2013","journal-title":"Can J Ophthalmol"},{"key":"10.1016\/j.jid.2015.11.027_bib18","doi-asserted-by":"crossref","first-page":"3088","DOI":"10.1002\/dvdy.21343","article-title":"The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs","volume":"236","author":"Kwan","year":"2007","journal-title":"Dev Dyn"},{"key":"10.1016\/j.jid.2015.11.027_bib19","doi-asserted-by":"crossref","first-page":"E1774","DOI":"10.1210\/jc.2014-1029","article-title":"Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization","volume":"99","author":"Li","year":"2014","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.jid.2015.11.027_bib20","doi-asserted-by":"crossref","first-page":"2476","DOI":"10.1056\/NEJMoa1300253","article-title":"Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia","volume":"368","author":"Nesbit","year":"2013","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jid.2015.11.027_bib21","first-page":"1","article-title":"Phakomatosis pigmentovascularis","volume":"52","author":"Ota","year":"1947","journal-title":"Jpn J Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib22","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1038\/ng.2331","article-title":"De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes","volume":"44","author":"Riviere","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2015.11.027_bib23","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1001\/jamaophthalmol.2013.129","article-title":"Association of ocular and oculodermal melanocytosis with the rate of uveal melanoma metastasis: analysis of 7872 consecutive eyes","volume":"131","author":"Shields","year":"2013","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.jid.2015.11.027_bib24","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1001\/archophthalmol.2011.135","article-title":"Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma","volume":"129","author":"Shields","year":"2011","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.jid.2015.11.027_bib25","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1056\/NEJMoa1213507","article-title":"Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ","volume":"368","author":"Shirley","year":"2013","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jid.2015.11.027_bib26","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1001\/archopht.1990.01070100070037","article-title":"Ocular findings in oculodermal melanocytosis","volume":"108","author":"Teekhasaenee","year":"1990","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.jid.2015.11.027_bib27","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/S0161-6420(97)30346-7","article-title":"Glaucoma in phakomatosis pigmentovascularis","volume":"104","author":"Teekhasaenee","year":"1997","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jid.2015.11.027_bib28","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1016\/j.ophtha.2005.02.019","article-title":"Primary choroidal melanoma in phakomatosis pigmentovascularis IIa","volume":"112","author":"Tran","year":"2005","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jid.2015.11.027_bib29","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1046\/j.1525-1470.1999.99011.x","article-title":"Phakomatosis pigmentovascularis type IIIb associated with moyamoya disease","volume":"16","author":"Tsuruta","year":"1999","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib30","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/nature07586","article-title":"Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi","volume":"457","author":"Van Raamsdonk","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.jid.2015.11.027_bib31","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1038\/ng1412","article-title":"Effects of G-protein mutations on skin color","volume":"36","author":"Van Raamsdonk","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2015.11.027_bib32","doi-asserted-by":"crossref","first-page":"2191","DOI":"10.1056\/NEJMoa1000584","article-title":"Mutations in GNA11 in uveal melanoma","volume":"363","author":"Van Raamsdonk","year":"2010","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jid.2015.11.027_bib33","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1111\/j.1346-8138.2003.tb00403.x","article-title":"Phakomatosis pigmentovascularis II A and II B: clinical findings in 24 patients","volume":"30","author":"Vidaurri-de la Cruz","year":"2003","journal-title":"J\u00a0Dermatol"},{"key":"10.1016\/j.jid.2015.11.027_bib35","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1056\/NEJM199112123252403","article-title":"Activating mutations of the stimulatory G protein in the McCune-Albright syndrome","volume":"325","author":"Weinstein","year":"1991","journal-title":"N\u00a0Engl J Med"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X16003328?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X16003328?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T13:08:31Z","timestamp":1567516111000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X16003328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["S0022202X16003328"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2015.11.027","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.726082427.793515069","asserted-by":"object"}]},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2016,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2015.11.027","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}