Evidence map›Paper›PMID 36313893›Full record

ArticleFrontiers in pediatrics2022

Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in

Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Marek Niedziela, Anna Sowińska-Seidler, Paweł Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszyńska

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

Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Observational
  2. Review
  3. Article
  4. 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

7 authors.

Aleksandra Szczawińska-PopłonykDepartment of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Poznań University of Medical Sciences, Poznań, Poland.
Natalia PopłonykStudent Scientific Society for Pediatric Endocrinology, Poznań University of Medical Sciences, Poznań, Poland.
Marek NiedzielaDepartment of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznań University of Medical Sciences, Poznań, Poland.
Anna Sowińska-SeidlerDepartment of Medical Genetics, Poznań University of Medical Sciences, Poznań, Poland.
Paweł SztromwasserDepartment of Biostatistics and Translational Medicine, Medical University of Łódź, Łódź, Poland.
Aleksander JamsheerDepartment of Medical Genetics, Poznań University of Medical Sciences, Poznań, Poland.
Monika Obara-MoszyńskaDepartment of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznań University of Medical Sciences, Poznań, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of RASopathies, clinical disorders defined by disruptions in the RAS/MAPK signaling pathway. It is caused by heterozygous gain-of-function germline mutations in genes encoding protein kinases:

Indexed as

craniofacial dysmorphismgrowth hormoneimmunodeficiencyimmunoglobulinsMAP2K1rasopathyshort stature

Identifiers

PMID36313893
PMCPMC9614356

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.