{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T23:04:32Z","timestamp":1791068672090,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T00:00:00Z","timestamp":1620000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1002\/mgg3.1669","type":"journal-article","created":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T16:01:21Z","timestamp":1620057681000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome"],"prefix":"10.1002","volume":"9","author":[{"given":"Giulia","family":"Romanisio","sequence":"first","affiliation":[{"name":"Pediatric Neurology and Neuromuscular Diseases Unit IRCCS Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2473-5282","authenticated-orcid":false,"given":"Cristina","family":"Chelleri","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neuromuscular Diseases Unit IRCCS Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-7239","authenticated-orcid":false,"given":"Marcello","family":"Scala","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neuromuscular Diseases Unit IRCCS Giannina Gaslini Institute Genoa Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2815-6288","authenticated-orcid":false,"given":"Gianluca","family":"Piccolo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neuromuscular Diseases Unit IRCCS Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8820-4400","authenticated-orcid":false,"given":"Barbara","family":"Carlini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6751-5031","authenticated-orcid":false,"given":"Laura","family":"Gatti","sequence":"additional","affiliation":[{"name":"Neurobiology Laboratory, Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3097-0388","authenticated-orcid":false,"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9744-5222","authenticated-orcid":false,"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2493-628X","authenticated-orcid":false,"given":"Anna","family":"Bersano","sequence":"additional","affiliation":[{"name":"Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7312-0204","authenticated-orcid":false,"given":"Marco","family":"Pavanello","sequence":"additional","affiliation":[{"name":"Pediatric Neurosurgery Unit IRCCS Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8498-3750","authenticated-orcid":false,"given":"Patrizia","family":"De Marco","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3594-068X","authenticated-orcid":false,"given":"Maria Cristina","family":"Diana","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neuromuscular Diseases Unit IRCCS Giannina Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2018.10.006"},{"key":"e_1_2_6_3_1","first-page":"49","article-title":"Moyamoya disease and syndromes: From genetics to clinical management","volume":"8","author":"Guey S.","year":"2015","journal-title":"The Application of Clinical Genetics"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.113.001720"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3171\/2011.10.FOCUS11228"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jstrokecerebrovasdis.2016.07.004"},{"issue":"5","key":"e_1_2_6_7_1","first-page":"575","article-title":"Conference statement. National Institutes of Health Consensus Development Conference","volume":"45","author":"Neurofibromatosis","year":"1988","journal-title":"Archives of Neurology"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61921"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3171\/2015.10.PEDS15537"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.3340\/jkns.2015.57.6.408"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-015-9668-y"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-018-3833-7"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3171\/ped.2004.100.2.0142"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201712120"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1669","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1669","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1669","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T02:22:38Z","timestamp":1693362158000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1669"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,3]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1002\/mgg3.1669"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1669","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,3]]},"assertion":[{"value":"2021-05-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1669"}}