Evidence map›Paper›PMID 33673493›Full record

ArticleGenes2021

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the

Ewelina Wolańska, Agnieszka Pollak, Małgorzata Rydzanicz, Karolina Pesz, Magdalena Kłaniewska, Anna Rozensztrauch, Paweł Skiba, Piotr Stawiński, Rafał Płoski, Robert Śmigiel

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PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 22% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

10 authors at 2 institutions in 1 country.

Ewelina WolańskaDepartment of Pediatrics, Division of Propaedeutic of Pediatrics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland.
Agnieszka PollakDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.ORCID 0000-0002-2847-1782
Małgorzata RydzaniczDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.ORCID 0000-0002-6969-0535
Karolina PeszDepartment of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Magdalena KłaniewskaDepartment of Pediatrics, Division of Propaedeutic of Pediatrics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland.ORCID 0000-0001-5738-8526
Anna RozensztrauchDepartment of Pediatrics, Division of Neonatology, Wroclaw Medical University, 51-618 Wroclaw, Poland.
Paweł SkibaDepartment of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Piotr StawińskiDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.
Rafał PłoskiDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.ORCID 0000-0001-6286-5526
Robert ŚmigielDepartment of Pediatrics, Division of Propaedeutic of Pediatrics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland.
Wroclaw Medical University · PLMedical University of Warsaw · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Psychomotor delay, hypotonia, and intellectual disability, as well as heart defects, urogenital malformations, and characteristic cranio-facial dysmorphism are the main symptoms of dysmorphic syndrome associated with intergenic deletion in the Xq24 chromosome region including the

Indexed as

Chromosome DeletionHemizygoteAbnormalities, MultipleChildChromosomes, Human, XHumansIntellectual DisabilityMaleNerve Tissue ProteinsNuclear ProteinsSyndromeUbiquitin-Conjugating EnzymesNerve Tissue ProteinsNuclear ProteinsSTEEP1 protein, humanUBE2A protein, humanUbiquitin-Conjugating Enzymescontiguous gene deletion Xq24CXorf56 genedysmorphic syndromeintellectual disabilityUBE2A gene

Identifiers

PMID33673493
PMCPMC7997426
OpenAlexW3134997789

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.