Evidence map›Paper›PMID 42707265›Full record

ArticleHuman mutation2026

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Hussein Abdul Nabi, Luke Dreher, Jack Hartnett, Ashley Crossley, Hussein El Ghandour, Mayowa Osundiji, Hicham El Masry, Chadi Ayoub, Fadi E Shamoun, Linnea M Baudhuin

Abstract read
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In one paragraph

Article in Human mutation, 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

10 authors.

Hussein Abdul NabiDepartment of Cardiovascular Medicine, Mayo Clinic Arizona, Phoenix, Arizona, USA, mayoclinic.org.ORCID https://orcid.org/0009-0006-0940-0168
Luke DreherDepartment of Cardiovascular Medicine, Mayo Clinic Arizona, Phoenix, Arizona, USA, mayoclinic.org.ORCID https://orcid.org/0000-0002-5144-9292
Jack HartnettDepartment of Cardiovascular Medicine, Mayo Clinic Arizona, Phoenix, Arizona, USA, mayoclinic.org.
Ashley CrossleyDepartment of Cardiovascular Medicine, Mayo Clinic Arizona, Phoenix, Arizona, USA, mayoclinic.org.ORCID https://orcid.org/0009-0002-4273-1429
Hussein El GhandourDepartment of Cardiovascular Medicine, Mayo Clinic Arizona, Phoenix, Arizona, USA, mayoclinic.org.
Mayowa OsundijiDepartment of Cardiovascular Medicine, Mayo Clinic Arizona, Phoenix, Arizona, USA, mayoclinic.org.ORCID https://orcid.org/0000-0001-6658-3964
Hicham El MasryDepartment of Cardiovascular Medicine, Mayo Clinic Arizona, Phoenix, Arizona, USA, mayoclinic.org.ORCID https://orcid.org/0000-0002-2470-2862
Chadi AyoubDepartment of Cardiovascular Medicine, Mayo Clinic Arizona, Phoenix, Arizona, USA, mayoclinic.org.ORCID https://orcid.org/0000-0001-5877-7478
Fadi E ShamounDepartment of Cardiovascular Medicine, Mayo Clinic Arizona, Phoenix, Arizona, USA, mayoclinic.org.
Linnea M BaudhuinDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA, mayoclinic.org.ORCID https://orcid.org/0000-0003-4230-5032

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Loeys-Dietz syndrome (LDS) is a heritable connective tissue disorder caused by pathogenic variants in genes of the transforming growth factor- Methods: We conducted a retrospective cohort study of adults with genetically confirmed LDS evaluated between 2018 and 2024 across Mayo Clinic sites. Patients with pathogenic, likely pathogenic, or suspicious variants in Results: A total of 93 patients were included (29 Conclusion: Distinct genotype-phenotype associations exist among LDS subtypes.

Indexed as

Genetic VariationLoeys-Dietz SyndromeReceptor, Transforming Growth Factor-beta Type IAdultFemaleGenetic Association StudiesGenotypeHumansMaleMiddle AgedMutationPhenotypeReceptor, Transforming Growth Factor-beta Type IIRetrospective StudiesSmad3 ProteinReceptor, Transforming Growth Factor-beta Type IReceptor, Transforming Growth Factor-beta Type IISmad3 ProteinSMAD3 protein, humanTGFBR1 protein, humanTGFBR2 protein, humanarrhythmiasgenotype–phenotype correlationLoeys–Dietz syndromesurgical interventions

Identifiers

PMID42707265
PMCPMC13547592

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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.