Evidence map›Paper›PMID 34828280›Full record

ReviewGenes2021

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.

Kinga Kozma, Marius Bembea, Claudia M Jurca, Mihai Ioana, Ioana Streață, Simona Ş Şoşoi, Andrei Pirvu, Codruța D Petchesi, Ariana Szilágyi, Cristian N Sava and 4 more

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

Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 55% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. 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

14 authors at 3 institutions in 2 countries.

Kinga KozmaFaculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.
Marius BembeaFaculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.
Claudia M JurcaFaculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.
Mihai IoanaRegional Center of Medical Genetics Dolj, 200349 Craiova, Romania.
Ioana StreațăRegional Center of Medical Genetics Dolj, 200349 Craiova, Romania.
Simona Ş ŞoşoiRegional Center of Medical Genetics Dolj, 200349 Craiova, Romania.
Andrei PirvuRegional Center of Medical Genetics Dolj, 200349 Craiova, Romania.
Codruța D PetchesiFaculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.ORCID 0000-0002-8442-6791
Ariana SzilágyiFaculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.
Cristian N SavaFaculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.ORCID 0000-0001-6456-5770
Alexandru JurcaFaculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.
Anikó UjfalusiDivision of Clinical Genetics, Faculty of Medicine, Departament of Laboratory Medicine, University of Debrecen, 4032 Debrecen, Hungary.
Zsuzsanna SzűcsDivision of Clinical Genetics, Faculty of Medicine, Departament of Laboratory Medicine, University of Debrecen, 4032 Debrecen, Hungary.ORCID 0000-0003-2836-3383
Katalin SzakszonFaculty of Medicine, Departament of Pediatrics, University of Debrecen, 4032 Debrecen, Hungary.
University of Oradea · ROUniversity of Medicine and Pharmacy of Craiova · ROUniversity of Debrecen · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the

Indexed as

Chromosome DeletionAcrocephalosyndactyliaChild, PreschoolChromosomes, Human, Pair 7Comparative Genomic HybridizationHumansKaryotypeMaleNerve Tissue ProteinsZinc Finger Protein Gli3GLI3 protein, humanNerve Tissue ProteinsZinc Finger Protein Gli3array-CGHdeletion 7pGreig cephalopolysyndactylyGreig cephalopolysyndactyly contiguous gene syndromestructural chromosomal anomalies

Identifiers

PMID34828280
PMCPMC8623992
OpenAlexW3208208380

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.