ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2009
Clinical and molecular features of Joubert syndrome and related disorders.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 125 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
125 citing papers in PubMed, 1 synthesis or guideline pooled it, 265 citations in OpenAlex.
- Update on neuroimaging phenotypes of mid-hindbrain malformations.Neuroradiology · 2015Pooled it
- Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.Journal of pediatric gastroenterology and nutrition · 2018Trial
- Skeletal involvement in Joubert syndrome: From low bone mineral density to severe secondary osteoporosis.Intractable & rare diseases research · 2026Article
- Review
- Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.Human genomics · 2026Article
- Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report.Children (Basel, Switzerland) · 2026Article
- Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish.Frontiers in molecular neuroscience · 2026Review
- Comprehensive Rehabilitation in a Child with Joubert Syndrome: A Case Report.Progress in rehabilitation medicine · 2026Article
- Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease.BMJ case reports · 2025Article
- Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.JCI insight · 2025Article
- Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study.Cureus · 2025Article
- New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.Reports (MDPI) · 2025Article
- Proteins with proximal-distal asymmetries in axoneme localisation control flagellum beat frequency.Nature communications · 2025Article
- The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025Review
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- Mega Cisterna Magna: Current Perspectives and Future Directions-A Literature Review.Radiology research and practice · 2025Review
- Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.Cerebellum (London, England) · 2024Article
- Evaluation and post-transplant management of children after multi-organ-with-kidney transplantation.Pediatric nephrology (Berlin, Germany) · 2024Review
- Article
- TheBiomedicines · 2024Review
65 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.