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This case is intended to draw attention to the rare association of JS and MDPH by increasing the awareness of this syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2018-229016","type":"journal-article","created":{"date-parts":[[2019,4,23]],"date-time":"2019-04-23T16:05:48Z","timestamp":1556035548000},"page":"e229016","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Joubert syndrome with multiple pituitary hormone deficiency"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2583-5736","authenticated-orcid":false,"given":"Nese","family":"Akcan","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, Near East University, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Firdevs","family":"Bas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukran","family":"Poyrazoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruveyde","family":"Bundak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, University of Kyrenia, Kyrenia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,4,23]]},"reference":[{"key":"2025082709053413000_12.4.e229016.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70136-4"},{"key":"2025082709053413000_12.4.e229016.2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-20"},{"key":"2025082709053413000_12.4.e229016.3","first-page":"851","article-title":"The \u2019molar tooth sign' in Joubert syndrome","volume":"59","author":"Rehman","year":"2009","journal-title":"J Pak Med Assoc"},{"key":"2025082709053413000_12.4.e229016.4","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ajmg.c.30229","article-title":"Clinical and molecular features of Joubert syndrome and related disorders","volume":"151C","author":"Parisi","year":"2009","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025082709053413000_12.4.e229016.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng2039"},{"key":"2025082709053413000_12.4.e229016.6","doi-asserted-by":"publisher","DOI":"10.1038\/ncb3201"},{"key":"2025082709053413000_12.4.e229016.7","first-page":"161","article-title":"Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?","volume":"36","author":"Al-Gazali","year":"1999","journal-title":"J Med Genet"},{"key":"2025082709053413000_12.4.e229016.8","first-page":"367","article-title":"An Unusual Presentat\u0131on Of Joubert Syndrome And Related D\u0131sorders In A Newborn: Panhypop\u0131tu\u0131tar\u0131sm","volume":"27(3","author":"Erol","year":"2016","journal-title":"Genet Couns"},{"key":"2025082709053413000_12.4.e229016.9","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5002630"},{"key":"2025082709053413000_12.4.e229016.10","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1007\/s00439-017-1765-z","article-title":"Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency","volume":"136","author":"Stephen","year":"2017","journal-title":"Hum Genet"},{"key":"2025082709053413000_12.4.e229016.11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38005"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-229016","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:05:44Z","timestamp":1756310744000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-229016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,4,23]]},"published-print":{"date-parts":[[2019,4]]}},"alternative-id":["10.1136\/bcr-2018-229016"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-229016","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4]]}}}