Evidence mapPaperPMID 38058754Full record

ArticleMolecular syndromology2023

Further Evidence for

Sinem Kocagil, İkbal Nur Şafak, Elif Saraç, Can Aydın, Sevilhan Artan, Birgül Kırel

Open access · greenAbstract read
In one paragraph

Article in Molecular syndromology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 41% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Sinem KocagilDepartment of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
İkbal Nur ŞafakDepartment of Pediatrics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Elif SaraçDepartment of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Can AydınDepartment of Pediatrics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Sevilhan ArtanDepartment of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Birgül KırelDepartment of Pediatrics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Eskişehir Osmangazi University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Fanconi anemia (FA) is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital malformations, predisposition to malignancy, and short stature. The Case Presentation: Here, we report the second patient, a 10-year-old male, who has failure to thrive, central nervous system abnormalities, bilateral radial ray defects, urogenital anomalies, facial dysmorphism, and thrombocytopenia. The patient was suspected to have FA according to the aforementioned findings, and the homozygous c.1501C>T variant in the Conclusion: In this article, clinical findings of the second patient with FA complementation group W are discussed in detail, aiming to expand the clinical and molecular spectrums of the disease.

Indexed as

Fanconi anemia complementation group WRadial ray defectsRare variantRFWD3

Identifiers

PMID38058754
PMCPMC10697762
OpenAlexW4385576704

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.