Evidence map›Paper›PMID 40428312›Full record

ArticleGenes2025

Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.

Carlos Reyes-Silva, Joseline Gallardo-Vizuete, Judith Guzmán-Acán, Gabriela Jaramillo-Koupermann, Alejandro Cabrera-Andrade

Abstract readCase Reports
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Carlos Reyes-SilvaUnidad de Genética, Hospital de Especialidades Eugenio Espejo, Quito 170403, Ecuador.
Joseline Gallardo-VizuetePosgrado de Endocrinología, Universidad de Las Américas, Quito 170125, Ecuador.
Judith Guzmán-AcánPosgrado de Endocrinología, Universidad de Las Américas, Quito 170125, Ecuador.
Gabriela Jaramillo-KoupermannLaboratorio de Biología Molecular, Subproceso de Anatomía Patológica, Hospital de Especialidades Eugenio Espejo, Quito 170403, Ecuador.ORCID 0000-0001-8068-1763
Alejandro Cabrera-AndradeGrupo de Bio-Quimioinformática, Universidad de Las Américas, Quito 170125, Ecuador.ORCID 0000-0001-9702-6618

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

DwarfismIntellectual DisabilityOsteochondrodysplasiasRare DiseasesEcuadorExome SequencingHumansMalePedigreePhenotypeYoung Adultc.1878delADyggve–Melchior–Clausen syndrome (DMC)dymeclinDYM geneEcuadorMestizo populationrare genetic disorders

Identifiers

PMID40428312
PMCPMC12110845

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.