Evidence map›Paper›PMID 38540347›Full record

ArticleGenes2024

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying

Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter and 1 more

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

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.6field-weighted citation impact, top 18% 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, 7 citations in OpenAlex.

  1. Review
  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

11 authors at 7 institutions in 3 countries.

Alrun HotzEuropean Reference Networks (ERN Skin), 75015 Paris, France.ORCID 0000-0003-2560-3951
Regina Fölster-HolstDepartment of Dermatology, Venerology and Allergology, University Medical Center Schleswig-Holstein, 24105 Kiel, Germany.
Vinzenz OjiEuropean Reference Networks (ERN Skin), 75015 Paris, France.
Emmanuelle BourratDepartment of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, 75015 Paris, France.
Jorge FrankDepartment of Dermatology, Venereology and Allergology, University Medical Center Göttingen, 37075 Göttingen, Germany.ORCID 0000-0003-1439-8577
Slaheddine MarrakchiDepartment of Dermatology, CHU Hedi Chaker, Sfax University, Sfax 3029, Tunisia.
Mariem EnnouriLaboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax 3029, Tunisia.
Lotta WanknerEuropean Reference Networks (ERN Skin), 75015 Paris, France.ORCID 0000-0002-4158-815X
Katalin KomlosiEuropean Reference Networks (ERN Skin), 75015 Paris, France.ORCID 0000-0002-6076-9992
Svenja AlterEuropean Reference Networks (ERN Skin), 75015 Paris, France.ORCID 0000-0003-2233-8734
Judith FischerEuropean Reference Networks (ERN Skin), 75015 Paris, France.ORCID 0000-0002-8580-8118
University of Freiburg · DEAssistance Publique – Hôpitaux de Paris · FREuropean Clinical Research Infrastructure Network · FRHopital Universitaire Hedi Chaker · TNUniversitätsmedizin Göttingen · DEUniversity Hospital Schleswig-Holstein · DEUniversity of Sfax · TN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations in connexins such as

Indexed as

Erythrokeratodermia VariabilisATP-Binding Cassette TransportersHumansMutationPedigreePhenotypeABCA12 protein, humanATP-Binding Cassette TransportersABCA12autosomal recessive congenital ichthyosis (ARCI)erythrokeratodermia variabilis

Identifiers

PMID38540347
PMCPMC10970099
OpenAlexW4392166372

What Socratic 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 Socratic graph.