ReviewGenes2021
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses 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
32 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.Frontiers in genetics · 2023Pooled it
- The genetics of obesity: aetiology, prevention and therapy.Nature metabolism · 2026Review
- Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.JCI insight · 2025Article
- Congenital melanocytic nevi in Bardet-Biedl syndrome.Orphanet journal of rare diseases · 2025Article
- Severe obesity with hypo-leptinemia.Endocrine journal · 2025Article
- Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.Orphanet journal of rare diseases · 2025Article
- Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.European journal of human genetics : EJHG · 2025Article
- [Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].Klinische Padiatrie · 2024Review
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.Orphanet journal of rare diseases · 2024Article
- A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome.Human genome variation · 2024Article
- The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers.International journal of medical sciences · 2024Article
- Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.Frontiers in endocrinology · 2024Review
- Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.Journal of molecular cell biology · 2023Article
- Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.Eye (London, England) · 2023Article
- Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.American journal of medical genetics. Part A · 2023Article
- Adipose Tissue Hyperplasia and Hypertrophy in Common and Syndromic Obesity-The Case of BBS Obesity.Nutrients · 2023Review
- Crohn's Disease in a Patient With Bardet-Biedl Syndrome: Random Anomaly or Rare Phenotypic Trait?JPGN reports · 2023Article
- Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases.Cureus · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary abnormalities, and kidney disease. It is caused by various types of mutations, mainly in genes encoding BBSome proteins, chaperonins, and IFT complex. Variable expressivity and pleiotropy are correlated with the existence of multiple genes and variants modifiers. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in Bardet-Biedl Syndrome, its mechanisms, and importance in early diagnosis and proper management.
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Identifiers
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.