Evidence map›Paper›PMID 37569527›Full record

ArticleInternational journal of molecular sciences2023

Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.

Klára Veres, Judit Bene, Kinga Hadzsiev, Miklós Garami, Sára Pálla, Rudolf Happle, Márta Medvecz, Zsuzsanna Zsófia Szalai

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

Article in International journal of molecular sciences, 2023. 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
1.2field-weighted citation impact, top 20% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2025
    Article
  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

8 authors at 3 institutions in 2 countries.

Klára VeresDepartment of Pediatric Dermatology, Heim Pal National Children's Institute, 1089 Budapest, Hungary.ORCID 0000-0001-9266-2754
Judit BeneDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7622 Pécs, Hungary.ORCID 0000-0001-5757-6244
Kinga HadzsievDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7622 Pécs, Hungary.ORCID 0000-0003-2303-1670
Miklós GaramiPediatric Center, Faculty of Medicine, Semmelweis University, 1085 Budapest, Hungary.ORCID 0000-0003-4298-2746
Sára PállaDepartment of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.
Rudolf HappleDepartment of Dermatology, Medical Center-University of Freiburg, 79104 Freiburg, Germany.ORCID 0000-0002-6338-1766
Márta MedveczDepartment of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.ORCID 0000-0002-3126-096X
Zsuzsanna Zsófia SzalaiDepartment of Pediatric Dermatology, Heim Pal National Children's Institute, 1089 Budapest, Hungary.
Semmelweis University · HUUniversity of Pecs · HUUniversity of Freiburg · DE

Funding

Foundation for the Development of Heim Pál Children's Hospital 142/2023.National Research, Development and Innovation Office EFOP- 3.6.3-VEKOP-16-2017-00009National Research, Development and Innovation Office FK131916National Research, Development and Innovation Office KA-2021-13
6 · The paper itself

Abstract

Plexiform neurofibromas occurring in approximately 20-50% of all neurofibromatosis type-1 (NF1) cases are histologically benign tumors, but they can be fatal due to compression of vital structures or transformation to malignant sarcomas or malignant peripheral nerve sheath tumors. All sizeable plexiform neurofibromas are thought to result from an early second mutation giving rise to a loss of heterozygosity of the

Indexed as

Neurofibroma, PlexiformNeurofibromatosis 1ChildFemaleGenes, Neurofibromatosis 1HumansMosaicismMutationloss of heterozygositymolecular targeted therapyneurocutaneous syndromeneurofibromatosis type-1second hit mutationsegmental plexiform neurofibromasplice-site mutationssuperimposed mosaicismwhole exome sequencing

Identifiers

PMID37569527
PMCPMC10418935
OpenAlexW4385422998

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.