Evidence map›Paper›PMID 35620261›Full record

ArticleClinical case reports2022

A new variant of MYCN gene as a cause of Feingold syndrome.

Naim Zeka, Ramush Bejiqi, Abdurrahim Gerguri, Leonore Zogaj, Haki Jashari

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

Article in Clinical case reports, 2022. 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
0.4field-weighted citation impact, top 38% 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, 3 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  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

5 authors at 1 institution in 2 countries.

Naim ZekaPediatric Clinic Department of Neurology University Clinical Center of Kosovo Pristina Kosovo.
Ramush BejiqiPediatric Clinic Department of Cardiology University Clinical Center of Kosovo Pristina Kosovo.
Abdurrahim GerguriPediatric Clinic Department of Neurology University Clinical Center of Kosovo Pristina Kosovo.
Leonore ZogajPediatric Clinic Department of Neurology University Clinical Center of Kosovo Pristina Kosovo.
Haki JashariPediatric Clinic Department of Neurology University Clinical Center of Kosovo Pristina Kosovo.ORCID https://orcid.org/0000-0002-4577-8604
University Clinical Center of Kosovo · XK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Feingold syndrome 1 (FS1) is a rare disorder that is inherited in autosomal dominant manner with full penetrance but with variable expressivity. The most common phenotypical features described are finger and toe anomalies, microcephaly, short stature, and intestinal atresia. Dysmorphic features, intellectual disability and other organ anomalies are less frequently described. Here, we present a 7-year-old boy with severe intellectual disability who is diagnosed with FS1 syndrome caused by a new heterozygous variant of MYCN gene.

Indexed as

digital anomaliesgenetic disorderintellectual disabilitymicrocephaly

Identifiers

PMID35620261
PMCPMC9125397
OpenAlexW4281297909

What OpenQuestion 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 OpenQuestion graph.