Evidence map›Paper›PMID 41465473›Full record

ArticleInternational journal of molecular sciences2025

A Family with Meester-Loeys Syndrome Caused by a Novel Missense Variant in the

José A Riancho, Ana I Vega, Alvaro Del Real, Carolina Sañudo, José L Pérez-Castrillón, Raquel García-López, Nuria Puente, J Francisco Nistal, José L Fernández-Luna

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 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

9 authors.

José A RianchoServicio de Medicina Interna, Hospital U.M. Valdecilla, 39008 Santander, Spain.ORCID 0000-0003-0691-8755
Ana I VegaInstituto de Investigación Marqués de Valdecilla (IDIVAL), 39011 Santander, Spain.
Alvaro Del RealDepartamento de Medicina y Psiquiatría, Universidad de Cantabria, 39008 Santander, Spain.
Carolina SañudoDepartamento de Medicina y Psiquiatría, Universidad de Cantabria, 39008 Santander, Spain.
José L Pérez-CastrillónServicio de Medicina Interna, Hospital Río Hortega, 47012 Valladolid, Spain.
Raquel García-LópezInstituto de Investigación Marqués de Valdecilla (IDIVAL), 39011 Santander, Spain.ORCID 0000-0002-1621-5474
Nuria PuenteServicio de Medicina Interna, Hospital U.M. Valdecilla, 39008 Santander, Spain.ORCID 0000-0001-9538-9917
J Francisco NistalInstituto de Investigación Marqués de Valdecilla (IDIVAL), 39011 Santander, Spain.ORCID 0000-0002-4152-7621
José L Fernández-LunaInstituto de Investigación Marqués de Valdecilla (IDIVAL), 39011 Santander, Spain.

Funding

Instituto de Salud Carlos III CIBER-CV CB16/11/00264 and PI21/00084
6 · The paper itself

Abstract

Meester-Loeys syndrome (MLS) is an X-linked connective tissue disorder caused by pathogenic

Indexed as

Mutation, MissenseAdultEhlers-Danlos SyndromeFemaleHumansJoint InstabilityMaleMiddle AgedPedigreeTransforming Growth Factor betaTransforming Growth Factor betaaortic aneurysmbiglycanconnective tissue disorderjoint hypermobilityTGF-β

Identifiers

PMID41465473
PMCPMC12732883

What OpenQuestion holds

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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.