{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:53:13Z","timestamp":1747187593012,"version":"3.40.5"},"reference-count":6,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T00:00:00Z","timestamp":1668384000000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in <jats:italic>FGFR2<\/jats:italic> (p.Cys382Arg). By 2\u2009years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initially associated with fibroblast growth factor 3 (<jats:italic>FGFR3<\/jats:italic>) mutations, three cases of RAVEN have been identified with mutations in <jats:italic>FGFR2<\/jats:italic> (p.Ser252Trp) and one case of linear keratinocytic epidermal nevi has been identified with the same mutation as the mutation identified in our patient. This strongly supports the pathogenic role of these mutations.<\/jats:p>","DOI":"10.1111\/pde.15176","type":"journal-article","created":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T02:21:37Z","timestamp":1668478897000},"page":"382-384","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7992-1555","authenticated-orcid":false,"given":"In\u00e9s","family":"Gracia\u2010Darder","sequence":"first","affiliation":[{"name":"Dermatology Department University Hospital Son Espases  Palma de Mallorca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9366-3230","authenticated-orcid":false,"given":"Ana","family":"Llull Ramos","sequence":"additional","affiliation":[{"name":"Dermatology Department University Hospital Son Espases  Palma de Mallorca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0438-1184","authenticated-orcid":false,"given":"Aniza","family":"Giacaman","sequence":"additional","affiliation":[{"name":"Dermatology Department University Hospital Son Espases  Palma de Mallorca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"G\u00f3mez Bellvert","sequence":"additional","affiliation":[{"name":"Pathology Department University Hospital Son Espases  Palma de Mallorca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia","family":"Obrador\u2010Hevia","sequence":"additional","affiliation":[{"name":"Molecular Diagnosis and Genetics Department, Health Research Institute of the Balearic Islands (IdISBa) University Hospital Son Espases  Palma de Mallorca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Jubert Esteve","sequence":"additional","affiliation":[{"name":"Dermatology Department Hospital Quironsalud Palmaplanas  Palma de Mallorca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Mart\u00edn\u2010Santiago","sequence":"additional","affiliation":[{"name":"Dermatology Department University Hospital Son Espases  Palma de Mallorca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annder.2011.10.411"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annder.2012.01.005"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.17581"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.14344"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.17319"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy190"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15176","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.15176","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15176","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T23:28:37Z","timestamp":1692574117000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15176"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,14]]},"references-count":6,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1111\/pde.15176"],"URL":"https:\/\/doi.org\/10.1111\/pde.15176","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2022,11,14]]},"assertion":[{"value":"2022-07-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}