{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T02:23:20Z","timestamp":1792031000878,"version":"4.4.0"},"reference-count":13,"publisher":"FapUNIFESP (SciELO)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:p>Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise.<\/jats:p>","DOI":"10.1590\/s0004-282x2010000200023","type":"journal-article","created":{"date-parts":[[2010,5,5]],"date-time":"2010-05-05T12:52:50Z","timestamp":1273063970000},"page":"273-276","source":"Crossref","is-referenced-by-count":5,"title":["Joubert syndrome: large clinical variability and a unique neuroimaging aspect"],"prefix":"10.1590","volume":"68","author":[{"given":"Em\u00edlia Katiane Embiru\u00e7u","family":"Le\u00e3o","sequence":"first","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc\u00edlia Martyn","family":"Lima","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Otac\u00edlio de Oliveira","family":"Maia J\u00fanior","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"Parizotto","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/sj.ejhg.5201648","article-title":"Joubert syndrome (and related disorders) (OMIM213300)","volume":"15","author":"Parisi MA","year":"2007","journal-title":"Eur J Hum 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MS","year":"2008","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1086\/302655","article-title":"Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity","volume":"65","author":"Saar K","year":"1999","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1086\/378206","article-title":"Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 Locus on Chromosome 11p12-13.3","volume":"73","author":"Keeler LC","year":"2003","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/ng1419","article-title":"Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome","volume":"36","author":"Ferland RJ","year":"2004","journal-title":"Nature Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1086\/425985","article-title":"Mutations in the AHI1 gene, encoding Jouberin, cause Joubert syndrome with cortical polymicrogyria","volume":"75","author":"Dixon-Salazar T","year":"2004","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","article-title":"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome","volume":"75","author":"Parisi MA","year":"2004","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ng1786","article-title":"The centrosomal protein nephocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4","volume":"38","author":"Sayer JA","year":"2006","journal-title":"Nature Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1086\/510499","article-title":"The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome","volume":"80","author":"Baala L","year":"2007","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","article-title":"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome","volume":"39","author":"Delous M","year":"2007","journal-title":"Nature Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/ng2069","article-title":"Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, causes Joubert syndrome","volume":"39","author":"Arts HH","year":"2007","journal-title":"Nature Genet"}],"container-title":["Arquivos de 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