Evidence map›Paper›PMID 34888090›Full record

ArticleSultan Qaboos University medical journal2021

A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.

Nishath Hamza, Nashat Al Sukaiti, Khwater A M Ahmed, Rosa Romano, Uday A Gokhale, Qiang Pan-Hammarström

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

Article in Sultan Qaboos University medical journal, 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 61% 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

6 authors at 3 institutions in 4 countries.

Nishath HamzaNational Genetic Center.
Nashat Al SukaitiDepartments of Pediatric Allergy & Clinical Immunology.
Khwater A M AhmedDepartments of Pediatric Allergy & Clinical Immunology.
Rosa RomanoDivision of Pediatric Stem Cell Transplantation & Regenerative Medicine, Stanford University, Stanford, USA.
Uday A GokhaleHistopathology, Royal Hospital, Muscat, Oman.
Qiang Pan-HammarströmDepartment of Biosciences & Nutrition, Karolinska University Hospital, Stockholm, Sweden.
Royal Hospital · OMKarolinska University Hospital · SEStanford University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or hyper-immunoglobulin E syndrome. Although more than 80 NS-associated pathogenic mutations in the

Indexed as

Netherton SyndromeChildHumansMutationOmanProteinase Inhibitory Proteins, SecretorySerine Peptidase Inhibitor Kazal-Type 5Proteinase Inhibitory Proteins, SecretorySerine Peptidase Inhibitor Kazal-Type 5SPINK5 protein, humanCase reportCongenital Ichthyosiform ErythrodermaGeneticsNetherton SyndromeOmanPrimary Immunodeficiency DiseaseSerine Peptidase Inhibitor Kazal Type 5

Identifiers

PMID34888090
PMCPMC8631226
OpenAlexW3153292613

What OpenQuestion holds

Textmetadata
LicenceCC BY-ND
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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.