Evidence map›Paper›PMID 38534443›Full record

ArticleBiology2024

New Genetic Variants of

Jaime Toral López, Sandra Gómez Martinez, María Del Refugio Rivera Vega, Edgar Hernández-Zamora, Sergio Cuevas Covarrubias, Belem Arely Ibarra Castrejón, Luz María González Huerta

Open access · goldAbstract read
In one paragraph

Article in Biology, 2024. 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
1.2field-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. Article
  2. Article
  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

7 authors at 3 institutions in 1 country.

Jaime Toral LópezDepartment of Medical Genetics, Centro Médico Ecatepec ISSEMYM, Ecatepec 55000, México State, Mexico.ORCID 0000-0003-0324-7351
Sandra Gómez MartinezServicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.ORCID 0000-0002-1863-0145
María Del Refugio Rivera VegaServicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.
Edgar Hernández-ZamoraMedicina Genómica, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", México City 14389, Mexico.ORCID 0000-0002-7511-4155
Sergio Cuevas CovarrubiasServicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.
Belem Arely Ibarra CastrejónServicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.
Luz María González HuertaServicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.
Hospital General de México · MXInstituto Nacional de Rehabilitación · MXUniversidad de Ecatepec · MX

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1-9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 (

Indexed as

CCDcleidocranial dysplasianovel mutationsRunt-related transcription factor 2 geneRUNX2 gene

Identifiers

PMID38534443
PMCPMC10968410
OpenAlexW4392596426

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.