ArticleHematology/oncology clinics of North America2009
Dyskeratosis congenita.
Article in Hematology/oncology clinics of North America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 122 papers, 1 of them a synthesis that pooled it.
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
122 citing papers in PubMed, 1 synthesis or guideline pooled it, 249 citations in OpenAlex.
- Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.Bone marrow transplantation · 2015Guideline
- Danazol Treatment for Telomere Diseases.The New England journal of medicine · 2016Trial
- Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.Haematologica · 2012Trial
- Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.Bone marrow transplantation · 2011Trial
- Therapeutic inhibition of telomeric DNA damage response rescues hematopoietic dysfunction driven by telomere shortening and aging.Nature aging · 2026Article
- Early-Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant.Clinical case reports · 2026Article
- Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.Biochemical genetics · 2026Article
- Adriamycin, Vinblastine and Dacarbazine With Immunotherapy Achieves Complete Metabolic Response in a Patient With Classical Hodgkin Lymphoma and Dyskeratosis Congenita.Journal of hematology · 2026Article
- Case Report of Hair Abnormalities in Dyskeratosis Congenita: A Trichoscopic and Microscopic Analysis.Skin appendage disorders · 2026Article
- Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage.Molecular genetics & genomic medicine · 2026Article
- Evaluation of a screening protocol for telomere biology disorders in individuals with interstitial lung disease undergoing lung transplant evaluation.ERJ open research · 2025Article
- Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.Blood advances · 2025Article
- Updates in Diagnostic Tools for ILD.Journal of clinical medicine · 2025Review
- Extensive and persistent tongue ulceration is an early character of dyskeratosis congenita.Orphanet journal of rare diseases · 2025Article
- Liver involvement in dyskeratosis congenita-Case series and concise literature review.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2025Article
- The zebrafish (NAR genomics and bioinformatics · 2025Article
- Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes.Case reports in genetics · 2025Article
- In Vivo Contactless, Cellular-Resolution Imaging of the Healthy and Pathological Human Limbus With 250-kHz Point-Scanning SD-OCT.Translational vision science & technology · 2024Article
- Skin cancer-associated genodermatoses in skin of color patients: a review.Archives of dermatological research · 2024Review
- Dyskeratosis congenita: a rare case report.Oxford medical case reports · 2024Article
62 more citing papers are in PubMed but not listed here.
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 2 institutions in 1 country.
Funding
Abstract
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors. Patients have very short germline telomeres, and approximately half have mutations in one of six genes encoding proteins that maintain telomere function. Accurate diagnosis of DC is critical to ensure proper clinical management, because patients who have DC and bone marrow failure do not respond to immunosuppressive therapy and may have increased morbidity and mortality associated with hematopoietic stem cell transplantation.
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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.