Evidence map›Paper›PMID 40476394›Full record

ArticlePediatric dermatology

Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene.

Luis Fernando Sánchez-Espino, Marta Ivars, Asunción Vicente-López, Carolina Prat-Torres, Judith Armstrong-Morón, Eulalia Baselga

Abstract readCase Reports
In one paragraph

Article in Pediatric dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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.

Luis Fernando Sánchez-EspinoDermatology Division, Pediatrics Department, Stollery Children's Hospital, Edmonton, Alberta, Canada.
Marta IvarsDermatology Department, Sant Joan de Déu Children's Hospital, Barcelona, Cataluña, Spain.
Asunción Vicente-LópezDermatology Department, Sant Joan de Déu Children's Hospital, Barcelona, Cataluña, Spain.
Carolina Prat-TorresDermatology Department, Sant Joan de Déu Children's Hospital, Barcelona, Cataluña, Spain.
Judith Armstrong-MorónMolecular Genetics Department, Sant Joan de Déu Children's Hospital, Barcelona, Cataluña, Spain.
Eulalia BaselgaDermatology Department, Sant Joan de Déu Children's Hospital, Barcelona, Cataluña, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood.

Indexed as

Erythrokeratodermia VariabilisChildFemaleHeterozygoteHumansMaleMutationPhenotypeautosomal recessive congenital ichthyosiscornification disorderserythrokeratodermia variabilis progressivagenodermatosisorphan diseases

Identifiers

PMID40476394
PMCPMC12646972

What Socratic 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 Socratic graph.