Evidence map›Paper›PMID 32606125›Full record

ArticleBMJ case reports2020

Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.

Piero Pavone, Silvia Marino, Antonino Maniaci, Salvatore Cocuzza

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

Article in BMJ case reports, 2020. 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
0.2field-weighted citation impact, top 50% 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, 5 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

4 authors at 1 institution in 1 country.

Piero PavoneDepartment of Clinical and Experimental Sciences, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Sicilia, Italy.
Silvia MarinoUnit of Pediatrics and Pediatric Emergency, University of Catania, Catania, Sicilia, Italy.
Antonino ManiaciENT Section, University of Catania Department of Surgical and Medical Sciences Advanced Technologies GF Ingrassia, Catania, Sicilia, Italy tnmaniaci29@gmail.com.ORCID http://orcid.org/0000-0002-1251-0185
Salvatore CocuzzaENT Section, University of Catania Department of Surgical and Medical Sciences Advanced Technologies GF Ingrassia, Catania, Sicilia, Italy.
University of Catania · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns have been reported, up to now, only an X linked form associated to mutations of the

Indexed as

DwarfismGenetic Diseases, X-LinkedHeart Defects, CongenitalAbnormalities, MultipleAdultBiological Variation, PopulationChild DevelopmentDiagnosis, DifferentialFaceFemaleGenes, DuplicateGenitalia, MaleGuanine Nucleotide Exchange FactorsHand Deformities, CongenitalHumansInfantFGD1 protein, humanGuanine Nucleotide Exchange Factorscongenital disordersdevelopmental paediatrocsear, nose and throat/otolaryngologygenetics

Identifiers

PMID32606125
PMCPMC7328892
OpenAlexW3039848187

What OpenQuestion holds

Textmetadata
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.