Evidence map›Paper›PMID 35885615›Full record

ArticleDiagnostics (Basel, Switzerland)2022

Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous

Snežana Minić, Dušan Trpinac, Ivana Novaković, Nataša Cerovac, Danijela Dobrosavljević Vukojević, Jérémie Rosain

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

Article in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 23% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Article
  3. The Impact of theDiagnostics (Basel, Switzerland) · 2023
    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 2 institutions in 2 countries.

Snežana MinićA Clinics of Dermatovenerology, University Clinical Center of Serbia, Deligradska 34, 11000 Belgrade, Serbia.ORCID 0000-0003-2185-9749
Dušan TrpinacInstitute of Histology and Embryology, Faculty of Medicine, University of Belgrade, Višegradska 26, 11000 Belgrade, Serbia.
Ivana NovakovićInstitute of Human Genetics, Faculty of Medicine, University of Belgrade, Višegradska 26, 11000 Belgrade, Serbia.
Nataša CerovacFaculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Danijela Dobrosavljević VukojevićA Clinics of Dermatovenerology, University Clinical Center of Serbia, Deligradska 34, 11000 Belgrade, Serbia.
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Belgrade · RSInserm · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband initially diagnosed with West syndrome, later revealed to be caused by Incontinentia pigmenti (IP). Furthermore, 20 years later, it was discovered that the proband was also a carrier of a heterozygous

Indexed as

Gaucher diseaseGBA gene mutationsIFN-α2aIFN-ωIKBKG gene mutationsIncontinentia pigmentineurodegenerationrare disease diagnostics

Identifiers

PMID35885615
PMCPMC9318020
OpenAlexW4285389736

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.