Evidence map›Paper›PMID 30891318›Full record

ArticleCase reports in genetics2019

Werner's Syndrome: Understanding the Phenotype of Premature Aging-First Case Described in Colombia.

A Rincón, L Mora, F Suarez-Obando, J A Rojas

Open access · goldAbstract readCase Reports
In one paragraph

Article in Case reports in genetics, 2019. 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 49% 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, 3 citations in OpenAlex.

  1. Review
  2. Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes.Journal of atherosclerosis and thrombosis · 2022
    Review
  3. Review
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.

A RincónHuman Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, Colombia.
L MoraHuman Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, Colombia.
F Suarez-ObandoHuman Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, Colombia.
J A RojasHuman Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, Colombia.ORCID 0000-0002-9784-188X
Pontificia Universidad Javeriana · CO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Werner's syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and "bird-like" facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics.

Identifiers

PMID30891318
PMCPMC6390251
OpenAlexW2914108079

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.