Evidence map›Paper›PMID 37521304›Full record

ArticleFrontiers in neurology2023

Case report: Expanding the phenotype of

Carlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, Susanna Rizzi, Camilla Cappelletti, Simone Pizzi, Daniele Frattini, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Roberta Zuntini and 6 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 30% of its field
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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

16 authors at 3 institutions in 1 country.

Carlo Alberto Cesaroni *Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy.
Marzia Pollazzon *Medical Genetics Unit, Mother-Child Department, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Cecilia ManciniMolecular Genetics and Functional Genomics Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Susanna RizziChild Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy.
Camilla CappellettiMolecular Genetics and Functional Genomics Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Simone PizziMolecular Genetics and Functional Genomics Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Daniele FrattiniChild Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy.
Carlotta SpagnoliChild Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy.
Stefano Giuseppe CaraffiMedical Genetics Unit, Mother-Child Department, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Roberta ZuntiniMedical Genetics Unit, Mother-Child Department, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Gabriele TrimarchiMedical Genetics Unit, Mother-Child Department, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Marcello NicetaMolecular Genetics and Functional Genomics Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Francesca Clementina RadioMolecular Genetics and Functional Genomics Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Marco TartagliaMolecular Genetics and Functional Genomics Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Livia GaravelliMedical Genetics Unit, Mother-Child Department, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Carlo FuscoChild Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy.
Bambino Gesù Children's Hospital · ITAzienda Sanitaria Unità Locale di Reggio Emilia · ITIstituti di Ricovero e Cura a Carattere Scientifico · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: We aimed to report on previously unappreciated clinical features associated with Methods: We performed whole-exome sequencing (WES) to molecularly characterize an individual presenting with ID, epilepsy, autism spectrum disorder, behavioral problems, and facial dysmorphisms as major features. Results: WES allowed us to identify a previously unreported Conclusion: We suggest that

Indexed as

angiomasautismchoanal atresiaepilepsyFOXP1movement disorder

Identifiers

PMID37521304
PMCPMC10382204
OpenAlexW4384407477

What Socratic 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 Socratic graph.