Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis.

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.

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.

Who cites it

11 citing papers in PubMed, 25 citations in OpenAlex.

1. A Chest Wall Myofibroma in an Adult.Surgical case reports · 2025
   Article
2. [Analysis of 141 cases with benign upper airway occupying in infant].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024
   Article
3. Multicentric infantile myofibromatosis with extensive involvement limited to bone.Skeletal radiology · 2022
   Article
4. Precise detection of a murine germline mutation of theJournal of advanced veterinary and animal research · 2021
   Article
5. The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression.Disease models & mechanisms · 2021
   Article
6. [Left mandibular infantile myofibromatosis: a case report].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2020
   Article
7. Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.Scientific reports · 2019
   Article
8. Infantile myofibromatosis treated by mandibulectomy and staged reconstruction with submental flap and free fibula flap: a case report.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2019
   Article
9. Notch Signaling in Vascular Smooth Muscle Cells.Advances in pharmacology (San Diego, Calif.) · 2017
   Review
10. Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.PloS one · 2015
    Article
11. Therapeutic modulation of Notch signalling--are we there yet?Nature reviews. Drug discovery · 2014
    Review

Corrections and comments

• Comment on
  A recurrent PDGFRB mutation causes familial infantile myofibromatosis.2013
• Comment on
  Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.2013

Authors and funding

1 author at 1 institution in 1 country.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

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