Evidence map›Paper›PMID 37958513›Full record

ArticleInternational journal of molecular sciences2023

Co-Occurrence of Congenital Aniridia Due to Nonsense

Tatyana A Vasilyeva, Natella V Sukhanova, Andrey V Marakhonov, Natalia Yu Kuzina, Nadezhda V Shilova, Vitaly V Kadyshev, Sergey I Kutsev, Rena A Zinchenko

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

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 40% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

8 authors at 1 institution in 1 country.

Tatyana A VasilyevaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Natella V SukhanovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-4371-775X
Andrey V MarakhonovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Natalia Yu KuzinaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Nadezhda V ShilovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-0641-1084
Vitaly V KadyshevResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Sergey I KutsevResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Rena A ZinchenkoResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-3586-3458
Research Centre for Medical Genetics · RU

Funding

Russian Science Foundation 22-25-00824
6 · The paper itself

Abstract

This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient's phenotype. The investigation involved comprehensive pediatric and ophthalmological examinations alongside karyotyping and Sanger sequencing of the

Indexed as

AniridiaDown SyndromeChildChromosomes, Human, Pair 21Eye ProteinsFemaleHomeodomain ProteinsHumansMutationPAX6 Transcription FactorPedigreeTrisomyEye ProteinsHomeodomain ProteinsPAX6 protein, humanPAX6 Transcription Factorcomplex phenotypecongenital aniridiaco-occurrenceDown syndromePAX6 nonsense variantrare diseasestrisomy 21

Identifiers

PMID37958513
PMCPMC10650867
OpenAlexW4387906962

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.