Evidence map›Paper›PMID 41519957›Full record

ArticleScientific reports2026

Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.

Katelin R Devine, Sarah Lynn, Priyam Jani, Cyrus Keyvanfar, Bikash Lamichhane, Ashleigh S Hanner, Catharine Dietrich, Rachel S Chung, Pamela A Frischmeyer-Guerrerio, Konstantinia Almpani and 2 more

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Article in Scientific reports, 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. Review
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

12 authors.

Katelin R DevineCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA.
Sarah LynnCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA.
Priyam JaniCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA.
Cyrus KeyvanfarCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA.
Bikash LamichhaneCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA.
Ashleigh S HannerCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA.
Catharine DietrichCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA.
Rachel S ChungCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA.
Pamela A Frischmeyer-GuerrerioFood Allergy Research Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.
Konstantinia AlmpaniCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA. nadine.almpani@nih.gov.
Olivier DuvergerCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA. olivier.duverger@nih.gov.
Janice S LeeCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Building 30, Room 202, Bethesda, MD, 20892, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Loeys-Dietz syndrome is a rare connective tissue disorder characterized by life-threatening aortic aneurysm and distinctive craniofacial anomalies. It is caused by mutations along the transforming growth factor beta (TGF-β) signaling pathway (LDS1-6). We previously showed that craniofacial anomalies varied among LDS subtypes and that LDS2, caused by mutations in the TGFBR2 gene, exhibited the most severe and variable phenotype. In this study, we performed a thorough qualitative and quantitative analysis of craniofacial anomalies in a mouse model for LDS2, through micro computed tomography and 3D geometric morphometric analysis at multiple postnatal stages. We show that craniofacial shape in Tgfbr2

Indexed as

Craniofacial AbnormalitiesLoeys-Dietz SyndromeSex CharacteristicsAnimalsDisease Models, AnimalFemaleImaging, Three-DimensionalMaleMiceMutationPhenotypeReceptor, Transforming Growth Factor-beta Type IISkullX-Ray MicrotomographyReceptor, Transforming Growth Factor-beta Type IIAsymmetryCraniofacial anomaliesGeometric morphometric analysisLoey-Dietz syndromeSexual dimorphismVariability

Identifiers

PMID41519957
PMCPMC12811269

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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.