ReviewFrontiers in aging2023
Rothmund-Thomson syndrome, a disorder far from solved.
Review in Frontiers in aging, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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
13 citing papers in PubMed, 21 citations in OpenAlex.
- A manually curated gene-phenotype catalogue for progeroid syndromes and premature aging.Aging · 2026Article
- Mimicry in Cutaneous Malignancy-Rare Forms of Mycosis Fungoides as Diagnostic Pitfalls: A Narrative Review.Medicina (Kaunas, Lithuania) · 2026Review
- Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.Orphanet journal of rare diseases · 2026Review
- Overexpression of ANAPC1 Affects the Cell Cycle Pathway to Promote the Progression of Lung Adenocarcinoma.Combinatorial chemistry & high throughput screening · 2026Article
- Elevated expression of ANAPC1 in lung squamous cell carcinoma: clinical implications and mechanisms.Future science OA · 2025Article
- Telomere Biology, Erosion, and Age-Related Conditions: Insights from Down Syndrome and Other Telomere-Associated Disorders.Molecular neurobiology · 2025Review
- The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.Life (Basel, Switzerland) · 2025Review
- Anesthetic Management of a Child With Rothmund-Thomson Syndrome for Major Orthopedic Surgery.Cureus · 2025Article
- Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage, and vascular defects.G3 (Bethesda, Md.) · 2025Article
- Article
- Regression of Monosomy 7 Clone in Patient With RECQL4-Associated Syndrome.American journal of hematology · 2025Article
- Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.Clinical case reports · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short stature, sparse hair, eyebrows/eyelashes, nail dysplasia, and skeletal abnormalities. While classically associated with mutations in the
Indexed as
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.