Evidence map›Paper›PMID 33363905›Full record

ArticleClinical case reports2020

Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report.

Maria Laura Blanco, Montserrat Torrent, Elena Bussaglia, Isabel Badell, Josep F Nomdedéu

Abstract readCase Reports
In one paragraph

Article in Clinical case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–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

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Pooled it
  2. Review
  3. 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.

Maria Laura BlancoDepartment of Hematology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.
Montserrat TorrentDepartment of and Pediatrics Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.
Elena BussagliaDepartment of Hematology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.
Isabel BadellDepartment of and Pediatrics Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.
Josep F NomdedéuDepartment of Hematology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.ORCID https://orcid.org/0000-0003-3399-346X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emerged as early as at 6 months of age. They ranged from lymphedema, deafness to myelodysplastic syndrome (MDS).

Indexed as

deafnessGATA2lymphedemamyelodysplastic syndromewarts

Identifiers

PMID33363905
PMCPMC7752306

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.