Evidence map›Paper›PMID 41828453›Full record

ArticleInternational journal of molecular sciences2026

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

Elitsa Gyokova, Eleonora Hristova-Atanasova, Zlatko Kirovakov, Kamelia Dimitrova

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2026. 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

4 authors.

Elitsa GyokovaDepartment of Obstetrics and Gynecology, Faculty of Medicine, Medical University-Pleven, 5800 Pleven, Bulgaria.ORCID 0000-0003-4007-7961
Eleonora Hristova-AtanasovaDepartment of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria.ORCID 0000-0003-0329-6081
Zlatko KirovakovFaculty of Public Health and Health Care, Burgas State University "Prof. d-r Asen Zlatarov", 8000 Burgas, Bulgaria.ORCID 0009-0003-7643-5879
Kamelia DimitrovaFaculty of Medicine, Medical University-Pleven, 5800 Pleven, Bulgaria.ORCID 0009-0005-3471-0566

Funding

Medical University-Pleven P16/2025
6 · The paper itself

Abstract

Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly

Indexed as

ArthritisCollagen Type IIConnective Tissue DiseasesHearing Loss, SensorineuralPrenatal DiagnosisRetinal DetachmentAdultFemaleGenetic Association StudiesHumansPhenotypePregnancyUltrasonography, PrenatalCOL2A1 protein, humanCollagen Type IICOL2A1frameshift variantgenotype–phenotype correlationmonogenic connective tissue disorderprenatal molecular diagnosisStickler syndrome

Identifiers

PMID41828453
PMCPMC12984705

What OpenQuestion holds

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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.