Evidence map›Paper›PMID 33126574›Full record

ReviewBrain sciences2020

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.

Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, Diana Carli, Lisa Pavinato, Geoffroy Delplancq, Paul Kuentz, Alfredo Brusco

Abstract readReview
In one paragraph

Review in Brain sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025
    Review
  2. Gonadal Function in Boys with Bilateral Undescended Testes.Journal of the Endocrine Society · 2024
    Article
  3. International journal of molecular sciences · 2022
    Article
  4. Review
  5. 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

8 authors.

Slavica TrajkovaDepartment of Medical Sciences, University of Torino, 10126 Turin, Italy.ORCID 0000-0002-0178-5327
Eleonora Di GregorioMedical Genetics Unit, Città della Salute e della Scienza, University Hospital, 10126 Turin, Italy.
Giovanni Battista FerreroDepartment of Public Health and Paediatrics, University of Torino, 10126 Turin, Italy.
Diana CarliDepartment of Public Health and Paediatrics, University of Torino, 10126 Turin, Italy.ORCID 0000-0001-5690-6504
Lisa PavinatoDepartment of Medical Sciences, University of Torino, 10126 Turin, Italy.ORCID 0000-0002-7630-8365
Geoffroy DelplancqCentre de Génétique Humaine, Université de Franche-Comté, 25000 Besançon, France.ORCID 0000-0002-9189-6847
Paul KuentzOncobiologie Génétique Bioinformatique, PCBio, Centre Hospitalier Universitaire de Besançon, 25000 Besançon, France.ORCID 0000-0003-2814-6303
Alfredo BruscoDepartment of Medical Sciences, University of Torino, 10126 Turin, Italy.ORCID 0000-0002-8318-7231

Funding

Ministero dell'Istruzione, dell'Università e della Ricerca D15D18000410001
6 · The paper itself

Abstract

Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes,

Indexed as

epileptic encephalopathyinfantile spasmsintellectual disabilityLSD-CoRESTPHF21APotocki-ShafferSCNAwest syndrome

Identifiers

PMID33126574
PMCPMC7693731

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.