Evidence map›Paper›PMID 38002926›Full record

ArticleGenes2023

Double Heterozygous Pathogenic Variants in the

Joanna Kinga Ponińska, Weronika Pelczar-Płachta, Agnieszka Pollak, Katarzyna Jończyk-Potoczna, Grażyna Truszkowska, Ilona Michałowska, Emilia Szafran, Zofia T Bilińska, Waldemar Bobkowski, Rafał Płoski

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

Article in Genes, 2023. 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
0.5field-weighted citation impact, top 28% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

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 at 3 institutions in 1 country.

Joanna Kinga PonińskaDepartment of Medical Biology, National Institute of Cardiology, 04-628 Warszawa, Poland.ORCID 0000-0002-0890-611X
Weronika Pelczar-PłachtaDepartment of Pediatric Cardiology, Poznan University of Medical Sciences, 61-701 Poznań, Poland.
Agnieszka PollakDepartment of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, 02-106 Warszawa, Poland.
Katarzyna Jończyk-PotocznaDepartment of Pediatric Radiology, Poznan University of Medical Sciences, 61-701 Poznań, Poland.ORCID 0000-0002-9412-8931
Grażyna TruszkowskaDepartment of Medical Biology, National Institute of Cardiology, 04-628 Warszawa, Poland.
Ilona MichałowskaDepartment of Radiology, National Institute of Cardiology, 04-628 Warszawa, Poland.
Emilia SzafranDepartment of Pediatric Cardiology, Poznan University of Medical Sciences, 61-701 Poznań, Poland.
Zofia T BilińskaUnit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warszawa, Poland.ORCID 0000-0003-1451-2069
Waldemar BobkowskiDepartment of Pediatric Cardiology, Poznan University of Medical Sciences, 61-701 Poznań, Poland.
Rafał PłoskiDepartment of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, 02-106 Warszawa, Poland.ORCID 0000-0001-6286-5526
Institute of Cardiology · PLPoznan University of Medical Sciences · PLMedical University of Warsaw · PL

Funding

National Institute of Cardiology 2.60/VII/20
6 · The paper itself

Abstract

Familial thoracic aortic aneurysms and dissections may occur as an isolated hereditary trait or as part of connective tissue disorders with Mendelian inheritance, but severe cardiovascular disease in pediatric patients is extremely rare. There is growing knowledge on pathogenic variants causing the disease; however, much of the phenotypic variability and gene-gene interactions remain to be discovered. We present a case report of a 5.5-year-old girl with an aortic aneurysm and concomitant polycystic kidney disease. Whole exome sequencing was performed, followed by family screening by amplicon deep sequencing and diagnostic imaging studies. In the proband, two pathogenic variants were identified: p.Tyr257Ter in the

Indexed as

Aortic Aneurysm, ThoracicPolycystic Kidney, Autosomal DominantPolycystic Kidney DiseasesChild, PreschoolFemaleGenes, RegulatorHumansearly onsetgenetic testingLOXPKD1polycystic kidney diseasethoracic aortic aneurysm

Identifiers

PMID38002926
PMCPMC10671125
OpenAlexW4387902800

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.