{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:08:39Z","timestamp":1790633319316,"version":"4.1.0"},"reference-count":42,"publisher":"Springer Publishing Company","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatal Network"],"published-print":{"date-parts":[[2025,6,1]]},"abstract":"<jats:p>Joubert syndrome (JS) is a rare neurodevelopmental and multisystem ciliopathy that affects 1 in 80,000\u201310,0000 infants globally per year. Classic defects include hypoplasia of the cerebellar vermis, thickened cerebellar peduncles, and deepened interpeduncular fossa, which is regarded as a \u201cmolar tooth\u201d sign. More than 30 genes have been associated with JS. Gene mutations disrupt normal ciliary development and function during early embryogenesis and cause a vast array of symptoms and pathologies. The purpose of this article is to investigate this rare and complex medical condition. We present up-to-date information on the genetics, pathophysiology, clinical manifestations, diagnostics, and management of JS. We also include a valuable perspective from a pediatric geneticist who specializes in JS to enhance our understanding of challenges associated with making a molecular diagnosis and emphasize the importance of early recognition and diagnostics as a means to optimize the quality of care.<\/jats:p>","DOI":"10.1891\/nn-2024-0052","type":"journal-article","created":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T14:58:33Z","timestamp":1752073113000},"page":"159-166","source":"Crossref","is-referenced-by-count":5,"title":["Genetics Review: Joubert Syndrome"],"prefix":"10.1891","volume":"44","author":[{"given":"Audrey M.","family":"Tran","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy J.","family":"Jnah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauricio J.","family":"De Castro Pretelt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"793","published-online":{"date-parts":[[2025,6,18]]},"reference":[{"key":"2025070907184516000_44.3.159.1","doi-asserted-by":"crossref","unstructured":"Agarwal BD , Mohapatra S , Singh S , Guduru V , Nayak SR . 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Joubert syndrome. In: Harding BN , Adle-Biassette H , Golden JA , Harding BN , Adle-Biassette H , Golden J , eds. Developmental Neuropathology . 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