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Isolated oxygen desaturation episodes could be a presenting manifestation of Joubert syndrome in a neonatal period.<\/jats:p>","DOI":"10.3233\/npm-180144","type":"journal-article","created":{"date-parts":[[2020,7,7]],"date-time":"2020-07-07T11:13:59Z","timestamp":1594120439000},"page":"587-591","source":"Crossref","is-referenced-by-count":2,"title":["A variable presentation of Joubert syndrome: Case report and a brief review"],"prefix":"10.1177","volume":"13","author":[{"given":"S.","family":"Vinod","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Metropolitan Hospital Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Ghaly","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Metropolitan Hospital Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Cruz Soriano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Metropolitan Hospital Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Sampath","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Metropolitan Hospital Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"February","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Metropolitan Hospital Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Metropolitan Hospital Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","reference":[{"issue":"4","key":"10.3233\/NPM-180144_ref1","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/S1536-0903(03)00137-1","article-title":"Recognition of the clinical signs and symptoms of Jouberst syndrome","volume":"3","author":"Merritt","year":"2003","journal-title":"Adv Neonat Care"},{"key":"10.3233\/NPM-180144_ref2","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/S1474-4422(13)70136-4","article-title":"Joubert syndrome: congenital cerebellar ataxia with the molar tooth","volume":"12","author":"Ramani","year":"2013","journal-title":"Lancet Neurol"},{"key":"10.3233\/NPM-180144_ref3","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ajhg.2009.12.007","article-title":"Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation","volume":"86","author":"Edvardson","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.3233\/NPM-180144_ref4","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ajhg.2015.09.009","article-title":"Joubert Syndrome in French Canadians and Identification of Mutations in CEP104","volume":"97","author":"Srour","year":"2015","journal-title":"Am J HumGenet"},{"key":"10.3233\/NPM-180144_ref5","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ajhg.2013.11.010","article-title":"Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans","volume":"94","author":"Shaheen","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.3233\/NPM-180144_ref6","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1212\/WNL.19.9.813","article-title":"Familial agenesis of the cerebellar vermis. 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