Evidence map›Paper›PMID 42510802›Full record

ArticleGenes2026

Clinical and Molecular Heterogeneity of

Annalidia Donato, Davide Vecchio, Caterina Marinaro, Rossella Brando, Alessia Bauleo, Elena Falcone, Daniela Concolino

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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

7 authors.

Annalidia DonatoPediatric Unit, Department of Science of Health, Magna Graecia University of Catanzaro, 88100 Catanzaro, Italy.
Davide VecchioRare Diseases and Medical Genetics Unit and Chromosomal Disorders and Dysmorphology Research Unit, Translational Paediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital, IRCSS, 00165 Rome, Italy.ORCID 0000-0003-2907-3206
Caterina MarinaroPediatric Unit, Department of Science of Health, Magna Graecia University of Catanzaro, 88100 Catanzaro, Italy.
Rossella BrandoBIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy.
Alessia BauleoBIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy.
Elena FalconeBIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy.ORCID 0009-0002-7781-4750
Daniela ConcolinoPediatric Unit, Department of Science of Health, Magna Graecia University of Catanzaro, 88100 Catanzaro, Italy.ORCID 0000-0003-1223-7358

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundArthrogryposis consists of a heterogeneous group of congenital disorders characterized by multiple joint contractures. Distal arthrogryposes (DAs) are often caused by pathogenic variants in fast-twitch muscle protein genes, including

methodsWe evaluated two siblings with features suggestive of arthrogryposis through detailed clinical examination, radiographic imaging, audiological assessment, and targeted next-generation sequencing (NGS) for skeletal dysplasias and an arthrogryposis panel, including

resultsBoth patients harbored three heterozygous

conclusionsThis report broadens the phenotypic spectrum of

Indexed as

ArthrogryposisCytoskeletal ProteinsMolecular Motor ProteinsChildFemaleHumansInfantMaleMutationPedigreePhenotypeSiblingsCytoskeletal ProteinsMolecular Motor ProteinsMYH3 polypeptide, humancompound heterozygositycongenital contracturesdistal arthrogryposisgenotype–phenotype correlationMYH3

Identifiers

PMID42510802
PMCPMC13408948

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.