Evidence map›Paper›PMID 38374928›Full record

ArticleOphthalmology science

Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in

Antonia Howaldt, Sandrine Lenglez, Clara Velmans, Anne Maria Schultheis, Thomas Clahsen, Mario Matthaei, Jürgen Kohlhase, Christian Vokuhl, Reinhard Büttner, Christian Netzer and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmology science. 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
–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

3 citing papers in PubMed.

  1. Solitary Myofibroma of the Nasal Septum: A Rare Clinical Entity.Journal of rhinology : official journal of the Korean Rhinologic Society · 2026
    Article
  2. Article
  3. 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

12 authors.

Antonia HowaldtDepartment of Ophthalmology, University of Cologne, Cologne, Germany.
Sandrine LenglezDe Duve Institute, University of Louvain, Brussels, Belgium.
Clara VelmansInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Anne Maria SchultheisInstitute of Pathology, University of Cologne, Cologne, Germany.
Thomas ClahsenDepartment of Ophthalmology, University of Cologne, Cologne, Germany.
Mario MatthaeiDepartment of Ophthalmology, University of Cologne, Cologne, Germany.
Jürgen KohlhaseCenter for Human Genetics, SYNLAB MVZ Humangenetik Freiburg GmbH, Freiburg, Germany.
Christian VokuhlInstitute of Pathology, University Hospital Bonn, Bonn, Germany.
Reinhard BüttnerInstitute of Pathology, University of Cologne, Cologne, Germany.
Christian NetzerInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Jean-Baptiste DemoulinDe Duve Institute, University of Louvain, Brussels, Belgium.
Claus CursiefenDepartment of Ophthalmology, University of Cologne, Cologne, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis. Design: Case series with genetic and functional Participants: Four individuals from 2 unrelated families with clinical signs of corneal myofibromatosis were investigated. Methods: Exome-based panel sequencing for platelet-derived growth factor receptor beta gene ( Main Outcome Measures: Sequencing data, immunohistochemical stainings, functional analysis of Results: We identified 2 novel, heterozygous gain-of-function variants in Conclusions: We describe 4 cases of corneal myofibromatosis caused by novel Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Indexed as

Corneal myofibromaImatinibInfantile myofibromatosisPDGFRBReceptor tyrosine kinase inhibitor

Identifiers

PMID38374928
PMCPMC10875226

What OpenQuestion holds

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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.