ReviewMolecular syndromology2016
Bardet-Biedl Syndrome.
Review in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 124 citations in OpenAlex.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- A Proposed Convergent Genetic and Molecular Framework for Legg-Calvé-Perthes Disease: A Scoping Review.International journal of molecular sciences · 2026Review
- Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.Biochemical genetics · 2026Article
- Bardet-Biedl syndrome in two sibling pairs: a case series.Journal of medical case reports · 2026Article
- Bardet-Biedl Syndrome: Report of a Classical Case from North India.Annals of African medicine · 2026Article
- The interplay between the cardiovascular system and pediatric congenital or acquired kidney diseases.Pediatric nephrology (Berlin, Germany) · 2025Review
- Bardet-Biedl syndrome: a rare cause of end-stage kidney disease. Case report.Annals of medicine and surgery (2012) · 2025Article
- Pharmaceutical inhibition of the Chk2 kinase mitigates cone photoreceptor degeneration in an iPSC model of Bardet-Biedl syndrome.iScience · 2025Article
- Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.Biochemical genetics · 2025Article
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- Ocular manifestations of renal ciliopathies.Pediatric nephrology (Berlin, Germany) · 2024Review
- Article
- Chronic kidney disease on the background of bardet-biedl syndrome: a case report and review of literature.Annals of medicine and surgery (2012) · 2024Article
- Adipose Tissue Hyperplasia and Hypertrophy in Common and Syndromic Obesity-The Case of BBS Obesity.Nutrients · 2023Review
- Rediscovering Primary Cilia in Pancreatic Islets.Diabetes & metabolism journal · 2023Review
- Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases.Cureus · 2023Article
- Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.Therapeutics and clinical risk management · 2023Review
- Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma.Frontiers in genetics · 2023Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.International journal of obesity (2005) · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life. At least 20 BBS genes have already been identified, and all of them are involved in primary cilia functioning. Genetic diagnosis of BBS is complicated due to lack of gene-specific disease symptoms; however, it is gradually becoming more accessible with the invention of multigene sequencing technologies. Clinical management of BBS is largely limited to a symptomatic treatment. Mouse experiments demonstrate that the most debilitating complication of BBS, blindness, can be rescued by topical gene therapy. There is a published case report describing the delay of BBS symptoms by nutritional compensation of the disease-related biochemical deficiencies. Progress in DNA testing technologies is likely to rapidly resolve all limitations in BBS diagnosis; however, much slower improvement is expected with regard to BBS treatment.
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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.