Evidence map›Paper›PMID 36345475›Full record

ArticlePharmacogenomics and personalized medicine2022

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.

Harry Pachajoa, Eidith Gomez-Pineda, Sebastian Giraldo-Ocampo, Juliana Lores

Open access · goldAbstract readCase Reports
In one paragraph

Article in Pharmacogenomics and personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Mowat-Wilson Syndrome: Case Report and Review ofInternational journal of molecular sciences · 2024
    Review
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

4 authors at 3 institutions in 1 country.

Harry PachajoaGenetics Division, Fundación Valle del Lili, Cali, Colombia.ORCID 0000-0003-2672-0439
Eidith Gomez-PinedaCentro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia.
Sebastian Giraldo-OcampoUniversidad del Valle, Cali, Colombia.
Juliana LoresGenetics Division, Fundación Valle del Lili, Cali, Colombia.ORCID 0000-0002-0679-4249
Fundación Valle del Lili · COIcesi University · COUniversidad del Valle · CO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mowat-Wilson syndrome is a rare, autosomal dominant neurodevelopmental disorder characterized by distinctive facial gestalt and intellectual disability that is often associated with microcephaly, seizures and multiple congenital anomalies, mainly heart defects. More than 350 patients and 180 genetic variants in the

Indexed as

genetic disordermultiple congenital disorderneurodevelopmental disorderZEB2

Identifiers

PMID36345475
PMCPMC9636884
OpenAlexW4308012312

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.