Evidence map›Paper›PMID 42656761›Full record

ArticleFrontiers in neuroscience2026

Case Report: A somatic

Song Su, Haochen Zou, Yinhua Lin, Huafang Jiang, Ying Ren, Wenchao Zhang, Wandong Hu, Deyue Li, Wei Zhang, Hongwei Zhang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neuroscience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Song Su *Neurology Department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Haochen Zou *Pediatrics, Yanbian University Medical College, Yanji, Jilin, China.
Yinhua LinPediatrics, Anqiu People's Hospital, Weifang, Shandong, China.
Huafang JiangNeurology Department, WeiFang Maternal and Child Health Hospital, Weifang, Shandong, China.
Ying RenNeurology Department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Wenchao ZhangNeurology Department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Wandong HuNeurology Department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Deyue LiNeurology Department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Wei ZhangEmergency department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Hongwei ZhangNeurology Department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by loss-of-function variants in the Methods: A 25-year-old woman with neurofibromas restricted to the left facial region underwent histopathological evaluation and whole exome sequencing (WES) of lesional tissue. Bioinformatic analyses were used to predict the splicing impact of a novel intronic variant. A minigene splicing assay was performed to experimentally assess transcript-level consequences. Protein structural modeling was used to evaluate the predicted effects on neurofibromin. Results: We describe a 25-year-old woman with a segmental distribution of neurofibromas confined to the left facial region, with a progressive mass present for more than two decades. Histopathological and immunohistochemical evaluation of the lesional tissue was performed, followed by WES of paired peripheral blood and affected tissue. WES of the affected tissue identified a novel somatic intronic deletion, Conclusion: This case expands the spectrum of splice-altering

Indexed as

immunohistochemicalminigene assayneurofibrominNF1segmental neurofibromatosissomatic mosaicismsplicing mutation

Identifiers

PMID42656761
PMCPMC13506871

What OpenQuestion holds

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Registered trials

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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.