ReviewGenes2022
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Review in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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
12 citing papers in PubMed, 19 citations in OpenAlex.
- Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.Biochemical genetics · 2026Article
- Diagnosis and management of adult telomere biology disorders.Haematologica · 2026Review
- Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.Frontiers in genetics · 2026Article
- 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
- TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.Journal of medical case reports · 2025Article
- [Progeroid syndromes : Aging, skin aging, and mechanisms of progeroid syndromes].Dermatologie (Heidelberg, Germany) · 2023Review
- Telomere biology: from disorders to hematological diseases.Frontiers in oncology · 2023Review
- Case report: A novel mutation inFrontiers in oncology · 2023Article
- Exploring deep learning methods for recognizing rare diseases and their clinical manifestations from texts.BMC bioinformatics · 2022Article
- The role of liver transplantation in the care of primary hepatic vascular tumours in children.Frontiers in oncology · 2022Review
- Presumptive Cytomegalovirus Retinitis as a Complication of Dyskeratosis Congenita: A Case Report.Case reports in ophthalmologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors. It may also involve immunodeficiencies, dental, pulmonary and liver disorders, and other minor complication. Dyskeratosis congenita shows marked genetic heterogeneity, as at least 14 genes are responsible for the shortening of telomeres characteristic of this disease. This review discusses clinical characteristics, molecular genetics, disease evolution, available therapeutic options and differential diagnosis of dyskeratosis congenita to provide an interdisciplinary and personalized medical assessment that includes family genetic counseling.
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What Socratic 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 Socratic graph.