Evidence map›Paper›PMID 32953415›Full record

ArticleBalkan journal of medical genetics : BJMG2020

A New Splice-site Mutation of

E Erden, A C Ceylan, S Emre

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

Article in Balkan journal of medical genetics : BJMG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. The genetics of hyper IgE syndromes.Frontiers in immunology · 2025
    Review
  3. A novel mutation inFrontiers in genetics · 2022
    Article
  4. Article
  5. 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

3 authors at 2 institutions in 1 country.

E ErdenDepartment of Dermatology and Venereology, Yıldırım Beyazit University, Ankara, Turkey.
A C CeylanDepartment of Medical Genetics, Ankara City Hospital, Ankara, Turkey.
S EmreDepartment of Dermatology and Venereology, Yıldırım Beyazit University, Ankara, Turkey.
Ankara Yıldırım Beyazıt University · TRMemorial Ankara Hospital · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythroderma, hair shaft abnormality and an atopic diathesis. We report a case of a 20-year-old male patient presented with pruritus, decreased sweat secretion and generalized erythema on his body. Netherton syndrome is caused by mutations in the

Indexed as

Hair shaft abnormalityNetherton syndrome (NS)SPINK5 gene mutation

Identifiers

PMID32953415
PMCPMC7474220
OpenAlexW3082584615

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.