Evidence map›Paper›PMID 34440431›Full record

ArticleGenes2021

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the

Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin and 17 more

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

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.4field-weighted citation impact, top 11% 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

6 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Expanding the Molecular Spectrum ofInternational journal of molecular sciences · 2022
    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

27 authors at 4 institutions in 1 country.

Anna Kutkowska-KaźmierczakDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0001-5295-7363
Maria BoczarPediatric Surgery Clinic, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Ewa KalkaUnit of Anthropology, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Jennifer CastañedaDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Jakub KlapeckiDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Aleksandra PietrzykDepartment of Clinical Genetics and Pathomorphology, University of Zielona Góra, 65-417 Zielona Góra, Poland.
Artur BarczykDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Olga MalinowskaDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Aleksandra LandowskaDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Tomasz GambinDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Katarzyna KowalczykDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0002-9867-063X
Barbara Wiśniowiecka-KowalnikDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Marta SmykDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Mateusz DawidziukDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0001-5102-8722
Katarzyna NiepokójDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.ORCID 0000-0002-8205-375X
Magdalena PaczkowskaDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Paweł SzyldDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Beata Lipska-ZiętkiewiczRare Diseases Centre, Medical University of Gdańsk, 80-210 Gdańsk, Poland.
Krzysztof SzczałubaDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.ORCID 0000-0001-8803-646X
Ewa KostykGenetic Counselling Unit Kostyk&Kruczek, 31-436 Kraków, Poland.
Agata RungeGenetic Department, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University of Toruń, 85-067 Bydgoszcz, Poland.
Karolina RutkowskaDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.ORCID 0000-0001-6688-2593
Rafał PłoskiDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.ORCID 0000-0001-6286-5526
Beata NowakowskaDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Jerzy BalDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Ewa ObersztynDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Monika GosDepartment of Medical Genetics, Institute of the Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Medical University of Warsaw · PLGdańsk Medical University · PLNicolaus Copernicus University · PLUniversity of Zielona Góra · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a mutation in the

Indexed as

Abnormalities, MultipleAdolescentAdultBone Diseases, DevelopmentalChildChild, PreschoolChromosome AberrationsChromosomes, Human, Pair 16Comparative Genomic HybridizationDwarfismExome SequencingFaciesFemaleGenetic Predisposition to DiseaseHumansInfantANKRD11 protein, humanRepressor Proteins16q24.3ANKRD11 genedysmorphic syndromehoarse voiceKBG syndromepsychomotor hyperactivityshort staturespeech delaywide, delayed closing fontanels

Identifiers

PMID34440431
PMCPMC8394041
OpenAlexW3194724190

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.