Evidence map›Paper›PMID 37239440›Full record

ArticleGenes2023

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in

Chiara Moltrasio, Maurizio Romagnuolo, Davide Riva, Davide Colavito, Silvia Mariel Ferrucci, Angelo Valerio Marzano, Gianluca Tadini, Michela Brena

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 25% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2025
    Guideline
  2. Review
  3. Article
  4. 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

8 authors at 2 institutions in 1 country.

Chiara MoltrasioDermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.ORCID 0000-0003-0060-5870
Maurizio RomagnuoloDermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.ORCID 0000-0002-7015-8319
Davide RivaDermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Davide ColavitoResearch & Innovation S.R.L. (R&I Genetics), 35127 Padova, Italy.
Silvia Mariel FerrucciDermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.ORCID 0000-0002-6734-1366
Angelo Valerio MarzanoDermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.ORCID 0000-0002-8160-4169
Gianluca TadiniPediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Michela BrenaPediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.ORCID 0000-0003-3603-4301
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITUniversity of Milan · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by

Indexed as

Dermatitis, AtopicIchthyosiform Erythroderma, CongenitalNetherton SyndromeFrameshift MutationHumansMutationSerine Peptidase Inhibitor Kazal-Type 5Serine Peptidase Inhibitor Kazal-Type 5SPINK5 protein, humanatopic dermatitisatopyframeshift mutationgenetic polymorphismNetherton syndrome

Identifiers

PMID37239440
PMCPMC10218509
OpenAlexW4378516523

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.