Evidence map›Paper›PMID 32100467›Full record

ArticleAmerican journal of medical genetics. Part A2020

Three-dimensional facial morphology in Cantú syndrome.

Helen I Roessler, Kathleen Shields, Dorothy K Grange, Nine V A M Knoers, Gijs van Haaften, Peter Hammond, Mieke M van Haelst

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

Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 42% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026
    Review
  2. Article
  3. Behavioral and cognitive functioning in individuals with Cantú syndrome.American journal of medical genetics. Part A · 2021
    Article
  4. Article
  5. Three-dimensional facial morphology in Cantú syndrome.American journal of medical genetics. Part A · 2020
    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 5 institutions in 3 countries.

Helen I RoesslerDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0003-3409-0756
Kathleen ShieldsDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Dorothy K GrangeDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Nine V A M KnoersDeptartment of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Gijs van HaaftenDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Peter HammondDepartment of Human Genetics, KU Leuven, Leuven, Belgium.
Mieke M van HaelstDepartment of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Utrecht University · NLWashington University in St. Louis · USAmsterdam University Medical Centers · NLKU Leuven · BEUniversity Medical Center Groningen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (K

Indexed as

AdolescentAdultCardiomegalyChildChild, PreschoolFaceFemaleGenetic Diseases, X-LinkedGenetic Predisposition to DiseaseHumansHypertrichosisImaging, Three-DimensionalKATP ChannelsMaleMutation, MissenseOsteochondrodysplasiasABCC9 protein, humanKATP ChannelsSulfonylurea ReceptorsuK-ATP-1 potassium channel3D imagingCantú syndromedense surface model (DSM)dysmorphologyfacial phenotypingprincipal component analysis (PCA)

Identifiers

PMID32100467
PMCPMC7217184
OpenAlexW3008807965

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.