Evidence map›Paper›PMID 42353781›Full record

ReviewGenes2026

Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New Cases.

Roberta Milone, Alessandro Orsini, Gemma Marinella, Valentina Rea, Rosa Pasquariello, Lorenza Marini, Roberta Battini

Abstract readCase ReportsReview
In one paragraph

Review 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.

Roberta MiloneDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.ORCID 0000-0001-7557-6598
Alessandro OrsiniPediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, 56126 Pisa, Italy.ORCID 0000-0001-5256-6573
Gemma MarinellaDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Valentina ReaDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Rosa PasquarielloDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Lorenza MariniPediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, 56126 Pisa, Italy.ORCID 0009-0002-1142-5656
Roberta BattiniDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.ORCID 0000-0002-7889-1355

Funding

Ministero della Salute Health Grant RC 2026
6 · The paper itself

Abstract

Pathogenic variants in the

Indexed as

Chloride ChannelsRaynaud DiseaseRett SyndromeChildFemaleHumansMaleMutationPhenotypeChloride ChannelsASDCLCN4-related neurodevelopmental disorderepilepsyX-linked intellectual disability

Identifiers

PMID42353781
PMCPMC13300261

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.