Evidence map›Paper›PMID 41737240›Full record

ArticleFrontiers in pediatrics2026

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent

Martina Isabella Armas Samaniego, Mateo Briones Vasquez, Mel Mariño Zambrano, Vanessa I Romero, Karen Melo, Juan Carlos Pozo-Palacios

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2026. 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
–field-weighted citation impact
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. 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.

Martina Isabella Armas SamaniegoEscuela de Biotecnología, Colegio de Ciencias Biológicas y Ambientales, Universidad San Francisco de Quito, Quito, Ecuador.
Mateo Briones VasquezEscuela de Medicina, Colegio de Ciencias de la Salud, Universidad San Francisco de Quito, Quito, Ecuador.
Mel Mariño ZambranoEscuela de Medicina, Colegio de Ciencias de la Salud, Universidad San Francisco de Quito, Quito, Ecuador.
Vanessa I RomeroEscuela de Medicina, Colegio de Ciencias de la Salud, Universidad San Francisco de Quito, Quito, Ecuador.
Karen MeloServicio de Oncología Pediátrica, Hospital Carlos Andrade Marin, Quito, Ecuador.
Juan Carlos Pozo-PalaciosEscuela de Medicina, Universidad de Cuenca, Cuenca, Ecuador.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This case report presents two Ecuadorian patients with Rothmund-Thomson syndrome type 2 (RTS2), an autosomal recessive disorder, who share a

Indexed as

clinical geneticsEcuadormolecular diagnosisrare diseasesRECQL4Rothmund-Thomson syndrome type 2

Identifiers

PMID41737240
PMCPMC12927648

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.