Evidence map›Paper›PMID 38790165›Full record

ArticleGenes2024

Characterization of a New Variant in

Carlo Santaniello, Alice Faversani, Luigi Corsaro, Giulia Melloni, Silvia Motta, Elena Mandorino, Davide Sacco, Sabine Stioui, Fulvio Ferrara, Davide Barteselli and 3 more

Abstract readCase Reports
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Functional genomics iniScience · 2026
    Article
  2. Review
  3. Article
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

13 authors.

Carlo SantanielloLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Alice FaversaniLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Luigi CorsaroLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.ORCID 0000-0003-1218-230X
Giulia MelloniLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Silvia MottaLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Elena MandorinoLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Davide SaccoLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.ORCID 0009-0003-4272-3362
Sabine StiouiLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Fulvio FerraraIntegrated Laboratory Medicine Services, Centro Diagnostico Italiano, 20147 Milan, Italy.ORCID 0000-0002-5425-4335
Davide BarteselliLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Dario De VitaLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Debora ManuelliLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Lucy CostantinoLaboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Adams-Oliver syndrome is a rare inherited condition characterized by scalp defects and limb abnormalities. It is caused by variants in different genes such as

Indexed as

Ectodermal DysplasiaGTPase-Activating ProteinsLimb Deformities, CongenitalPhosphoproteinsScalp DermatosesFemaleHumansMaleMutationPedigreePhenotypeARHGAP31 protein, humanGTPase-Activating ProteinsPhosphoproteinsAdams–Oliver syndromeARHGAP31clinical exome sequencinglimb defects

Identifiers

PMID38790165
PMCPMC11120939

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.