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The head CT on admission was normal for stroke and the lumbar puncture was negative for encephalitis. Her brain MRI showed \u2018molar tooth sign\u2019, suggestive of Joubert syndrome, which was confirmed by genetic testing showing anomalous <jats:italic>NPHP1<\/jats:italic> gene<\/jats:p>","DOI":"10.1136\/bcr-2017-220459","type":"journal-article","created":{"date-parts":[[2017,6,30]],"date-time":"2017-06-30T01:25:17Z","timestamp":1498785917000},"page":"bcr-2017-220459","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["An elusive ciliopathy: Joubert syndrome"],"prefix":"10.1136","volume":"2017","author":[{"given":"Carlo","family":"Canepa","sequence":"first","affiliation":[{"name":"Department of Stroke and Neurology, James Paget University Hospital, Norwich, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben","family":"Burton","sequence":"additional","affiliation":[{"name":"Stroke Services, James Paget University Hospitals NHS Foundation Trust, Great Yarmouth, Great Yarmouth, 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