ReviewGenes2021
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 43 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
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy.Orphanet journal of rare diseases · 2026Pooled it
- Craniofacial development: genetics, signaling pathways, teratogenic mechanisms, and clinal significance.Molecular biomedicine · 2026Review
- Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.Molecular genetics & genomic medicine · 2026Article
- Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.Molecular genetics & genomic medicine · 2026Article
- Signalling Pathways and Mechanical Forces Interact in Craniofacial Development and Homeostasis.International dental journal · 2026Review
- Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.Orthodontics & craniofacial research · 2026Article
- Consensus-based detection of aetiologic copy number variants for syndromic orofacial clefts utilising whole exome sequencing of case parent trios.BMC genomic data · 2026Article
- Genotype-phenotype correlation-driven precision management in hereditary conductive and mixed hearing loss.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Pregnancy with treacher collins syndrome in mechanical heart valve: a case report and discussion treacher collins syndrome and MHV.BMC pregnancy and childbirth · 2026Article
- Consensus-based Detection of Aetiologic Copy Number Variants For Syndromic Orofacial Clefts Utilising Whole Exome Sequencing of Case Parent Trios.Research square · 2026Article
- TCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer.Cell communication and signaling : CCS · 2026Article
- Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.Journal of clinical medicine · 2026Article
- A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome.Indian journal of ophthalmology · 2026Article
- Ribosomal proteins, miRNAs, and extracellular vesicles in myelodysplastic syndromes: molecular regulation and biomarker potential.Frontiers in oncology · 2026Review
- A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.BMC pediatrics · 2025Article
- Correction: Marszałek-Kruk et al. Treacher Collins Syndrome: Genetics, Clinical Features and Management.Genes · 2025Article
- Very rare combination of Pierre Robin sequence with patent ductus arteriosus, severe persistent pulmonary hypertension, and sepsis in an Afghan neonate: a case report and literature review.Oxford medical case reports · 2025Article
- Feasibility of High-Resolution Oximeter Plus Actigraphy Combined with a Cloud-Based Algorithm for the Detection of Obstructive Sleep Apnea in Children with Craniofacial Anomalies.Sleep science (Sao Paulo, Brazil) · 2025Article
- Obstructive Sleep Apnoea in Patients with Treacher Collins Syndrome-A Narrative Review.Journal of clinical medicine · 2025Review
- Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025Review
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the
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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.