Evidence map›Paper›PMID 37636262›Full record

ArticleFrontiers in genetics2023

Case Report: Sequential postzygotic

Roberta Zuntini, Chiara Cattani, Lucia Pedace, Evelina Miele, Stefano Giuseppe Caraffi, Stefano Gardini, Elena Ficarelli, Simone Pizzi, Francesca Clementina Radio, Angelica Barone and 9 more

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

Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 29% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

19 authors at 5 institutions in 1 country.

Roberta ZuntiniMedical Genetics Unit, Azienda USL, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Chiara CattaniMedical Genetics Unit, Azienda USL, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Lucia PedaceDepartment of Pediatric Hematology, Oncology and Cellular and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Evelina MieleDepartment of Pediatric Hematology, Oncology and Cellular and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Stefano Giuseppe CaraffiMedical Genetics Unit, Azienda USL, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Stefano GardiniDermatology Unit, Azienda USL, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Elena FicarelliDermatology Unit, Azienda USL, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Simone PizziMolecular Genetics and Functional Genomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Francesca Clementina RadioMolecular Genetics and Functional Genomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Angelica BaronePaediatric Hematology Oncology Unit, University Hospital of Parma, Parma, Italy.
Simonetta PianaDepartment of Oncology and Advanced Technologies, Pathology Unit, Azienda USL, IRCCS, Arcispedale S Maria Nuova, Reggio Emilia, Italy.
Patrizia BertoliniPaediatric Hematology Oncology Unit, University Hospital of Parma, Parma, Italy.
Domenico CorradiDepartment of Medicine and Surgery, Unit of Pathology, University of Parma, Parma, Italy.
Maria MarinelliMedical Genetics Unit, Azienda USL, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Caterina LongoDepartment of Dermatology, University of Modena and Reggio Emilia, Modena, Italy.
Alberico MotoleseDermatology Unit, Azienda USL, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Orsetta ZuffardiDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Marco TartagliaMolecular Genetics and Functional Genomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Livia GaravelliMedical Genetics Unit, Azienda USL, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Ospedale Santa Maria · ITBambino Gesù Children's Hospital · ITUniversity of Parma · ITAzienda Ospedaliera S.Maria · ITUniversity of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a 7-year-old boy born with epidermal nevi (EN) arranged according to Blaschko's lines involving the face and head, right upper limb, chest, and left lower limb, who developed a left paratesticular embryonal rhabdomyosarcoma at 18 months of age. Parallel sequencing identified a gain-of-function variant (c.37G>C, p.Gly13Arg) of

Indexed as

epidermal nevusHRASpaternal UPD11postzygotic mutationrhabdomyosarcoma

Identifiers

PMID37636262
PMCPMC10447906
OpenAlexW4385739806

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.