{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:56:30Z","timestamp":1789512990170,"version":"build-2803163510"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2013,7,10]],"date-time":"2013-07-10T00:00:00Z","timestamp":1373414400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1038\/ejhg.2013.142","type":"journal-article","created":{"date-parts":[[2013,7,10]],"date-time":"2013-07-10T10:20:29Z","timestamp":1373451629000},"page":"435-435","source":"Crossref","is-referenced-by-count":14,"title":["Clinical utility gene card for: Vici Syndrome"],"prefix":"10.1038","volume":"22","author":[{"given":"Thomas","family":"Cullup","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay L","family":"Kho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu","family":"Yau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shehla","family":"Mohammed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Gautel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,7,10]]},"reference":[{"key":"BFejhg2013142_CR1","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1038\/ng.2497","volume":"45","author":"T Cullup","year":"2013","unstructured":"Cullup T, Kho AL, Dionisi-Vici C et al: Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 2013; 45: 83\u201387.","journal-title":"Nat Genet"},{"key":"BFejhg2013142_CR2","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1089\/gtmb.2008.0096","volume":"13","author":"S Ellard","year":"2009","unstructured":"Ellard S, Shields B, Tysoe C et al: Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. Genet Test Mol Biomarkers 2009; 13: 381\u2013386.","journal-title":"Genet Test Mol Biomarkers"},{"key":"BFejhg2013142_CR3","doi-asserted-by":"publisher","first-page":"1849","DOI":"10.1002\/ajmg.a.33421","volume":"152A","author":"M Al-Owain","year":"2010","unstructured":"Al-Owain M, Al-Hashem A, Al-Muhaizea M et al: Vici syndrome associated with unilateral lung hypoplasia and myopathy. AmJ Med Genet Part A 2010; 152A: 1849\u20131853.","journal-title":"AmJ Med Genet Part A"},{"key":"BFejhg2013142_CR4","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/ajmg.10298","volume":"109","author":"T Chiyonobu","year":"2002","unstructured":"Chiyonobu T, Yoshihara T, Fukushima Y et al: Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. AmJ Med Genet Part A 2002; 109: 61\u201366.","journal-title":"AmJ Med Genet Part A"},{"key":"BFejhg2013142_CR5","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<479::AID-AJMG9>3.0.CO;2-D","volume":"85","author":"M del Campo","year":"1999","unstructured":"del Campo M, Hall BD, Aeby A et al: Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. AmJ Med Genet Part A 1999; 85: 479\u2013485.","journal-title":"AmJ Med Genet Part A"},{"key":"BFejhg2013142_CR6","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1002\/ajmg.a.33296","volume":"152A","author":"V McClelland","year":"2010","unstructured":"McClelland V, Cullup T, Bodi I et al: Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. AmJ Med Genet Part A 2010; 152A: 741\u2013747.","journal-title":"AmJ Med Genet Part A"},{"key":"BFejhg2013142_CR7","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1002\/ajmg.a.31584","volume":"143","author":"R Miyata","year":"2007","unstructured":"Miyata R, Hayashi M, Sato H et al: Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis. AmJ Med Genet Part A 2007; 143: 189\u2013194.","journal-title":"AmJ Med Genet Part A"},{"key":"BFejhg2013142_CR8","first-page":"375","volume":"47","author":"M Ozkale","year":"2012","unstructured":"Ozkale M, Erol I, Gumus A, Ozkale Y, Alehan F : Vici syndrome associated with sensorineural hearing loss and laryngomalacia. PediatrNeurol 2012; 47: 375\u2013378.","journal-title":"PediatrNeurol"},{"key":"BFejhg2013142_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2011\/421582","volume":"2011","author":"R. Curtis Rogers","year":"2011","unstructured":"Rogers CR, Aufmuth B, Monesson S : Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability. Case Reports in Genetics 2011; 2011: Article ID 421582.","journal-title":"Case Reports in Genetics"},{"key":"BFejhg2013142_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/ajmg.1320290102","volume":"29","author":"CD Vici","year":"1988","unstructured":"Vici CD, Sabetta G, Gambarara M et al: Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. AmJ Med Genet Part A 1988; 29: 1\u20138.","journal-title":"AmJ Med Genet Part A"},{"key":"BFejhg2013142_CR11","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1002\/ajmg.a.34273","volume":"158A","author":"E Said","year":"2012","unstructured":"Said E, Soler D, Sewry C : Vici syndrome\u2014a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. AmJ Med Genet Part A 2012; 158A: 440\u2013444.","journal-title":"AmJ Med Genet Part A"},{"key":"BFejhg2013142_CR12","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1002\/ajmg.a.34244","volume":"158A","author":"A Finocchi","year":"2012","unstructured":"Finocchi A, Angelino G, Cantarutti N et al: Immunodeficiency in Vici syndrome: a heterogeneous phenotype. AmJ Med Genet Part A 2012; 158A: 434\u2013439.","journal-title":"AmJ Med Genet Part A"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013142.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013142","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013142.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:08:44Z","timestamp":1684429724000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2013142"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,10]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["BFejhg2013142"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2013.142","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,10]]}}}